ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.2563+4C>T (rs3747626)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000273922 SCV000848484 benign Familial hemiplegic migraine 2016-08-04 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
GeneDx RCV000116452 SCV000167110 benign not specified 2013-05-07 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.
Genetic Services Laboratory, University of Chicago RCV000116452 SCV000150377 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Illumina Clinical Services Laboratory,Illumina RCV000387020 SCV000349914 likely benign Alternating hemiplegia of childhood 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000273922 SCV000349915 likely benign Familial hemiplegic migraine 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000273922 SCV000632370 benign Familial hemiplegic migraine 2017-12-18 criteria provided, single submitter clinical testing

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