ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.5371-17G>A

gnomAD frequency: 0.00025  dbSNP: rs376639668
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000604837 SCV000723311 likely benign not specified 2017-09-27 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 RCV002065312 SCV002438598 benign Ehlers-Danlos syndrome, classic type, 1 2025-01-27 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002065312 SCV002554694 benign Ehlers-Danlos syndrome, classic type, 1 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270791 SCV002554695 benign Fibromuscular dysplasia, multifocal 2022-03-15 criteria provided, single submitter clinical testing

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