SCV000039478 | OMIM | no assertion criteria provided | Pathogenic
(Feb 1, 1995)
| germline | literature only | PubMed (3) [See all records that cite these PMIDs] |
SCV000040412 | GeneReviews | no classification provided | not provided | germline | literature only | |
SCV000803550 | SIB Swiss Institute of Bioinformatics | criteria provided, single submitter (ACMG Guidelines, 2015) | Pathogenic
(May 31, 2018)
| unknown | curation | PubMed (7) [See all records that cite these PMIDs] |
SCV001976700 | Laboratory of Medical Genetics, National & Kapodistrian University of Athens | criteria provided, single submitter (ACMG Guidelines, 2015) | Pathogenic
(Oct 1, 2021)
| unknown | clinical testing | PubMed (2) [See all records that cite these PMIDs] |
SCV002012153 | 3billion | criteria provided, single submitter (ACMG Guidelines, 2015) | Pathogenic
(Oct 2, 2021)
| unknown | clinical testing | PubMed (6) [See all records that cite these PMIDs] |
SCV002061170 | DASA | criteria provided, single submitter (ACMG Guidelines, 2015) | Pathogenic
(Jan 5, 2022)
| germline | clinical testing | PubMed (8) [See all records that cite these PMIDs] |
SCV002600038 | Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences | no assertion criteria provided | Pathogenic
(Apr 12, 2022)
| germline | research | |
SCV004177654 | Genome-Nilou Lab | criteria provided, single submitter (ACMG Guidelines, 2015) | Pathogenic
(Apr 11, 2023)
| germline | clinical testing | PubMed (1) [See all records that cite this PMID] |