ClinVar Miner

Submissions for variant NM_000702.3(ATP1A2):c.1652-7C>A (rs200102433)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000710689 SCV000840973 benign not provided 2017-11-20 criteria provided, single submitter clinical testing
GeneDx RCV000123760 SCV000167103 benign not specified 2013-10-01 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.
Illumina Clinical Services Laboratory,Illumina RCV000281069 SCV000349898 uncertain significance Familial hemiplegic migraine 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000350198 SCV000349899 uncertain significance Alternating hemiplegia of childhood 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000281069 SCV000556869 likely benign Familial hemiplegic migraine 2017-12-08 criteria provided, single submitter clinical testing

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