ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.2751G>A (p.Thr917=) (rs146839867)

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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 RCV000186775 SCV000612443 benign not specified 2016-11-30 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724819 SCV000227633 uncertain significance not provided 2015-05-15 criteria provided, single submitter clinical testing
GeneDx RCV000186775 SCV000240343 benign not specified 2014-07-07 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 RCV000333644 SCV000349916 uncertain significance Familial hemiplegic migraine 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000388105 SCV000349917 uncertain significance Alternating hemiplegia of childhood 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000333644 SCV000556873 benign Familial hemiplegic migraine 2017-12-22 criteria provided, single submitter clinical testing

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