ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.513G>A (p.Arg171=)

gnomAD frequency: 0.00001  dbSNP: rs770882300
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000436115 SCV000534753 likely benign not specified 2016-12-13 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 RCV001474967 SCV001679146 likely benign Familial hemiplegic migraine 2024-06-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003942452 SCV004760438 likely benign ATP1A2-related disorder 2020-03-23 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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