ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.3744+19C>T

gnomAD frequency: 0.00009  dbSNP: rs200498760
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000419228 SCV000520064 likely benign not specified 2015-10-12 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659455 SCV000781270 likely benign Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV002062385 SCV002402686 benign Ehlers-Danlos syndrome, classic type, 1 2024-01-13 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002062385 SCV002554567 benign Ehlers-Danlos syndrome, classic type, 1 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270259 SCV002554568 benign Fibromuscular dysplasia, multifocal 2022-03-15 criteria provided, single submitter clinical testing

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