ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.1936-35C>A

gnomAD frequency: 0.13121  dbSNP: rs10858278
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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 RCV000253419 SCV000302155 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001594883 SCV001829838 benign not provided 2018-06-26 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270094 SCV002554127 benign Ehlers-Danlos syndrome, classic type, 1 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270095 SCV002554128 benign Fibromuscular dysplasia, multifocal 2022-03-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001594883 SCV005321030 benign not provided criteria provided, single submitter not provided

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