ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.-247T>G

gnomAD frequency: 0.99656  dbSNP: rs71483234
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000392884 SCV000478491 benign Ehlers-Danlos syndrome type 7A 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000830142 SCV000971877 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 RCV002270222 SCV002553504 benign Ehlers-Danlos syndrome, classic type, 1 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270223 SCV002553515 benign Fibromuscular dysplasia, multifocal 2022-03-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000830142 SCV005320977 benign not provided criteria provided, single submitter not provided

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