ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.2034+24C>T

gnomAD frequency: 0.02041  dbSNP: rs41298367
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000243788 SCV000302156 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000832393 SCV000974148 likely benign not provided 2018-06-14 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.
Genome-Nilou Lab RCV002270096 SCV002554142 benign Ehlers-Danlos syndrome, classic type, 1 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270097 SCV002554144 benign Fibromuscular dysplasia, multifocal 2022-03-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000832393 SCV005228044 likely benign not provided criteria provided, single submitter not provided

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