SCV000221085 | Counsyl | criteria provided, single submitter (Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015)) | Likely pathogenic
(Jan 26, 2015)
| unknown | literature only | PubMed (11) [See all records that cite these PMIDs]19444284, 17935162, 8535445, 10394930, 12655553, 12655550, 23430547, 21147011, 16879198, 19062537, 23357515 Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015), Citation Link, |
SCV000754077 | Labcorp Genetics (formerly Invitae), Labcorp | criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015)) | Pathogenic
(Nov 21, 2023)
| germline | clinical testing | PubMed (10) [See all records that cite these PMIDs] |
SCV000852108 | ClinGen PAH Variant Curation Expert Panel | reviewed by expert panel (ClinGen PAH ACMG Specifications v1) | Pathogenic
(Aug 10, 2018)
| germline | curation | PubMed (1) [See all records that cite this PMID] Citation Link, |
SCV001362289 | Women's Health and Genetics/Laboratory Corporation of America, LabCorp | criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015) | Pathogenic
(Mar 25, 2019)
| germline | clinical testing | PubMed (4) [See all records that cite these PMIDs] Citation Link, |
SCV001459232 | Natera, Inc. | no assertion criteria provided | Pathogenic
(Sep 16, 2020)
| germline | clinical testing | |
SCV002107119 | DASA | criteria provided, single submitter (ACMG Guidelines, 2015) | Pathogenic
(Mar 5, 2022)
| germline | clinical testing | PubMed (8) [See all records that cite these PMIDs] |
SCV004099308 | Zotz-Klimas Genetics Lab, MVZ Zotz Klimas | no assertion criteria provided | Pathogenic
(Oct 30, 2023)
| germline | clinical testing | |
SCV004201315 | Baylor Genetics | criteria provided, single submitter (ACMG Guidelines, 2015) | Pathogenic
(Dec 26, 2023)
| unknown | clinical testing | PubMed (1) [See all records that cite this PMID] |
SCV004800848 | Neonatal Disease Screening Center, Medical Genetics Center, Huaihua City Maternal and Child Health Care Hospital | no assertion criteria provided (ACMG Guidelines, 2015) | Pathogenic | germline | clinical testing | |