ClinVar Miner

Submissions for variant NM_000702.3(ATP1A2):c.1092G>A (p.Thr364=) (rs55741021)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724915 SCV000332395 uncertain significance not provided 2015-07-07 criteria provided, single submitter clinical testing
GeneDx RCV000186768 SCV000240336 benign not specified 2014-07-28 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 RCV000363124 SCV000349888 uncertain significance Alternating hemiplegia of childhood 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000273292 SCV000349889 uncertain significance Familial hemiplegic migraine 2016-06-14 criteria provided, single submitter clinical testing

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