ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.1119G>A (p.Ser373=) (rs1063125)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000116446 SCV000232981 benign not specified 2014-07-04 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000116446 SCV000305424 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000328389 SCV000349890 benign Alternating hemiplegia of childhood 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000359522 SCV000349891 benign Familial hemiplegic migraine 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000710685 SCV000756620 benign not provided 2019-03-06 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710685 SCV000840969 benign not provided 2017-04-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV000359522 SCV000845849 benign Familial hemiplegic migraine 2016-02-09 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000116446 SCV000150371 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.

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