ClinVar Miner

Submissions for variant NM_001127898.4(CLCN5):c.2197A>G (p.Thr733Ala)

dbSNP: rs1934065991
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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 RCV001196885 SCV001367519 uncertain significance X-linked recessive nephrolithiasis with renal failure 2018-10-15 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2.

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