ClinVar Miner

Submissions for variant NM_170665.4(ATP2A2):c.688A>G (p.Thr230Ala)

dbSNP: rs1337166364
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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 RCV001196481 SCV001367089 uncertain significance Acrokeratosis verruciformis of Hopf 2020-04-02 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,PP2,PP3,BS2.

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