ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.2731C>T (p.Gln911Ter)

dbSNP: rs1837850102
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001196398 SCV001367005 pathogenic Ehlers-Danlos syndrome, classic type, 2 2019-09-24 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2,PP4.

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