ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.5371-15C>T

gnomAD frequency: 0.00003  dbSNP: rs369764872
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000195685 SCV000249767 benign not specified 2015-03-02 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.
Invitae RCV002057026 SCV002364365 likely benign Ehlers-Danlos syndrome, classic type, 1 2024-01-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002057026 SCV002554696 benign Ehlers-Danlos syndrome, classic type, 1 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270001 SCV002554697 benign Fibromuscular dysplasia, multifocal 2022-03-15 criteria provided, single submitter clinical testing

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