ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.2130C>T (p.Ala710=) (rs374749325)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000440971 SCV000612437 benign not specified 2017-07-27 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000584945 SCV000692654 likely benign not provided 2017-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000440971 SCV000512195 likely benign not specified 2016-09-02 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 RCV000316861 SCV000349910 uncertain significance Alternating hemiplegia of childhood 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000353370 SCV000349911 uncertain significance Familial hemiplegic migraine 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000353370 SCV000756626 likely benign Familial hemiplegic migraine 2017-08-29 criteria provided, single submitter clinical testing

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