SCV000220919 | Counsyl | criteria provided, single submitter (Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015)) | Likely pathogenic
(Nov 25, 2014)
| unknown | literature only | PubMed (8) [See all records that cite these PMIDs] Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015), Citation Link, |
SCV000654968 | Labcorp Genetics (formerly Invitae), Labcorp | criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015)) | Pathogenic
(Dec 27, 2023)
| germline | clinical testing | PubMed (6) [See all records that cite these PMIDs] |
SCV000916407 | Women's Health and Genetics/Laboratory Corporation of America, LabCorp | criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015) | Pathogenic
(Jul 2, 2018)
| germline | clinical testing | PubMed (2) [See all records that cite these PMIDs] Citation Link, |
SCV001156588 | ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories | criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process 2024) | Pathogenic
(Oct 23, 2023)
| germline | clinical testing | Citation Link, |
SCV001163798 | Baylor Genetics | criteria provided, single submitter (ACMG Guidelines, 2015) | Pathogenic
(Feb 20, 2024)
| unknown | clinical testing | PubMed (1) [See all records that cite this PMID] |
SCV001364903 | Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine | criteria provided, single submitter (ACMG Guidelines, 2015) | Pathogenic
(Nov 1, 2019)
| germline | clinical testing | PubMed (2) [See all records that cite these PMIDs] |
SCV001455129 | Natera, Inc. | no assertion criteria provided | Pathogenic
(Sep 16, 2020)
| germline | clinical testing | |
SCV002780147 | Fulgent Genetics, Fulgent Genetics | criteria provided, single submitter (ACMG Guidelines, 2015) | Pathogenic
(Aug 16, 2021)
| unknown | clinical testing | PubMed (1) [See all records that cite this PMID] |
SCV003808427 | Revvity Omics, Revvity | criteria provided, single submitter (ACMG Guidelines, 2015) | Pathogenic
(May 24, 2023)
| germline | clinical testing | PubMed (1) [See all records that cite this PMID] |
SCV005077914 | ClinGen ACADVL Variant Curation Expert Panel, ClinGen | reviewed by expert panel (clingen acadvl acmg specifications v1) | Likely Pathogenic
(May 16, 2024)
| germline | curation | PubMed (2) [See all records that cite these PMIDs] Citation Link |