ClinVar Miner

Submissions for variant NM_001690.4(ATP6V1A):c.1227-6A>G

dbSNP: rs1709148623
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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 RCV001197428 SCV001368162 uncertain significance Autosomal recessive cutis laxa type 2D 2019-07-01 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,PP3,BS2.

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