ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.3475-42G>C

gnomAD frequency: 0.22492  dbSNP: rs3811152
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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 RCV000249530 SCV000302194 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001636738 SCV001851010 benign not provided 2018-06-26 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270114 SCV002554225 benign Ehlers-Danlos syndrome, classic type, 1 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270115 SCV002554226 benign Fibromuscular dysplasia, multifocal 2022-03-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001636738 SCV005321102 benign not provided criteria provided, single submitter not provided

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