ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.2961C>T (p.Cys987=) (rs74123254)

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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 RCV000390132 SCV000847432 benign Familial hemiplegic migraine 2016-03-18 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710691 SCV000840976 benign not provided 2017-08-15 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000116453 SCV000150378 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 RCV000340757 SCV000349922 likely benign Alternating hemiplegia of childhood 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000390132 SCV000349923 likely benign Familial hemiplegic migraine 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000390132 SCV000556863 benign Familial hemiplegic migraine 2018-01-05 criteria provided, single submitter clinical testing

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