ClinVar Miner

Submissions for variant NM_021625.5(TRPV4):c.1771T>A (p.Tyr591Asn)

dbSNP: rs1890124015
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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 RCV001197313 SCV001367976 likely pathogenic Charcot-Marie-Tooth disease axonal type 2C 2019-07-10 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PM1,PM2,PM5,PP3.

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