SCV000597799 | Genetic Services Laboratory, University of Chicago | criteria provided, single submitter (ACMG Guidelines, 2015) | Likely pathogenic
(May 24, 2017)
| germline | clinical testing | PubMed (1) [See all records that cite this PMID] |
SCV000897703 | Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics | criteria provided, single submitter (ACMG Guidelines, 2015) | Pathogenic
(Feb 27, 2019)
| germline | clinical testing | PubMed (1) [See all records that cite this PMID] |
SCV001138405 | Mendelics | criteria provided, single submitter (Mendelics Assertion Criteria 2017) | Pathogenic
(May 28, 2019)
| unknown | clinical testing | Citation Link, |
SCV001142424 | Reproductive Health Research and Development, BGI Genomics | no assertion criteria provided | Pathogenic
(Jan 6, 2020)
| germline | curation | |
SCV001251449 | UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill - NSIGHT-NC NEXUS | criteria provided, single submitter (ACMG Guidelines, 2015) | Likely pathogenic | germline | research | PubMed (2) [See all records that cite these PMIDs] |
SCV001368755 | Centre for Mendelian Genomics, University Medical Centre Ljubljana | criteria provided, single submitter (ACMG Guidelines, 2015) | Likely pathogenic
(Jan 1, 2016)
| unknown | clinical testing | PubMed (1) [See all records that cite this PMID] |
SCV001821911 | Genome-Nilou Lab | criteria provided, single submitter (ACMG Guidelines, 2015) | Pathogenic
(Jul 22, 2021)
| germline | clinical testing | PubMed (1) [See all records that cite this PMID] |
SCV002579802 | MGZ Medical Genetics Center | criteria provided, single submitter (ACMG Guidelines, 2015) | Pathogenic
(Feb 24, 2022)
| germline | clinical testing | PubMed (1) [See all records that cite this PMID] |
SCV003841208 | Baylor Genetics | criteria provided, single submitter (ACMG Guidelines, 2015) | Likely pathogenic | unknown | clinical testing | PubMed (1) [See all records that cite this PMID] |
SCV004807577 | Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center | criteria provided, single submitter (ACMG Guidelines, 2015) | Pathogenic
(Mar 29, 2024)
| germline | clinical testing | PubMed (1) [See all records that cite this PMID] |