ClinVar Miner

Submissions for variant NM_000701.8(ATP1A1):c.12+727T>A

dbSNP: rs1199382060
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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 RCV001198503 SCV001369458 uncertain significance Hypomagnesemia, seizures, and intellectual disability 2 2019-10-01 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,BP4.

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