ClinVar Miner

Submissions for variant NM_152296.5(ATP1A3):c.2543-6T>A

dbSNP: rs1599705282
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000842263 SCV000984269 likely benign not provided 2018-04-30 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001858439 SCV002131885 likely benign Dystonia 12 2023-02-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000842263 SCV002585748 uncertain significance not provided 2022-08-01 criteria provided, single submitter clinical testing ATP1A3: PM2, BP4

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