ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.25T>A (p.Tyr9Asn) (rs55858252)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000229197 SCV000848289 benign Familial hemiplegic migraine 2017-11-16 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Intact protein function observed in appropriate functional assay(s),Subpopulation frequency in support of benign classification,In silico models in agreement (benign),Other data supporting benign classification
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000436643 SCV000511421 likely benign not provided 2016-11-07 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000186782 SCV000337859 benign not specified 2015-12-09 criteria provided, single submitter clinical testing
GeneDx RCV000186782 SCV000240351 likely benign not specified 2017-10-05 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 RCV000229197 SCV000349866 likely benign Familial hemiplegic migraine 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000299488 SCV000349867 likely benign Alternating hemiplegia of childhood 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000229197 SCV000285580 likely benign Familial hemiplegic migraine 2018-01-03 criteria provided, single submitter clinical testing

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