ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.3034+6C>A

gnomAD frequency: 0.00001  dbSNP: rs574788908
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724025 SCV000227903 uncertain significance not provided 2014-07-21 criteria provided, single submitter clinical testing
GeneDx RCV000176273 SCV000512196 benign not specified 2015-04-09 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.
Invitae RCV001088648 SCV001008058 benign Familial hemiplegic migraine 2024-01-26 criteria provided, single submitter clinical testing

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