ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.1827+45G>A

gnomAD frequency: 0.15221  dbSNP: rs11103502
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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 RCV000251427 SCV000302152 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001651098 SCV001864402 benign not provided 2018-06-26 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270090 SCV002554120 benign Ehlers-Danlos syndrome, classic type, 1 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270091 SCV002554122 benign Fibromuscular dysplasia, multifocal 2022-03-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001651098 SCV005321018 benign not provided criteria provided, single submitter not provided

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