ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.1125G>A (p.Lys375=) (rs61734526)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000558580 SCV000847725 benign Familial hemiplegic migraine 2016-08-29 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Athena Diagnostics Inc RCV000710686 SCV000840970 benign not provided 2018-05-21 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000180520 SCV000232980 benign not specified 2014-07-04 criteria provided, single submitter clinical testing
GeneDx RCV000180520 SCV000167100 benign not specified 2013-05-26 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 RCV000558580 SCV000632356 benign Familial hemiplegic migraine 2017-11-10 criteria provided, single submitter clinical testing

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