ClinVar Miner

Submissions for variant NM_152296.5(ATP1A3):c.1932G>A (p.Gln644=)

dbSNP: rs1599715062
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000996933 SCV001151937 uncertain significance not provided 2019-11-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003626654 SCV004504048 likely benign Dystonia 12 2023-09-30 criteria provided, single submitter clinical testing

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