ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.4699-3del

dbSNP: rs1554808051
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000601474 SCV000724275 likely benign not specified 2017-10-31 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002065370 SCV002380821 benign Ehlers-Danlos syndrome, classic type, 1 2023-11-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002065370 SCV002554646 benign Ehlers-Danlos syndrome, classic type, 1 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270808 SCV002554648 benign Fibromuscular dysplasia, multifocal 2022-03-15 criteria provided, single submitter clinical testing

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