ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.2553C>T (p.Tyr851=)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002996101 SCV003299546 likely benign Familial hemiplegic migraine 2023-11-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004584987 SCV005074719 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing ATP1A2: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003961353 SCV004770621 likely benign ATP1A2-related disorder 2020-01-28 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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