ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.3259-8C>T

gnomAD frequency: 0.00159  dbSNP: rs146461106
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000226343 SCV000283484 benign Ehlers-Danlos syndrome, classic type, 1 2024-01-18 criteria provided, single submitter clinical testing
GeneDx RCV001722205 SCV000512708 likely benign not provided 2020-03-30 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659451 SCV000781266 likely benign Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000226343 SCV002554217 benign Ehlers-Danlos syndrome, classic type, 1 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270028 SCV002554218 benign Fibromuscular dysplasia, multifocal 2022-03-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003955296 SCV004766866 benign COL5A1-related disorder 2019-03-07 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003987463 SCV004803341 benign not specified 2024-01-15 criteria provided, single submitter clinical testing

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