ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.*83C>T

gnomAD frequency: 0.76018  dbSNP: rs13946
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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 RCV000323531 SCV000478604 benign Ehlers-Danlos syndrome type 7A 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001712165 SCV001940922 benign not provided 2018-06-16 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270229 SCV002554705 benign Ehlers-Danlos syndrome, classic type, 1 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270230 SCV002554706 benign Fibromuscular dysplasia, multifocal 2022-03-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001712165 SCV005321608 benign not provided criteria provided, single submitter not provided

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