ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.2675T>C (p.Met892Thr) (rs794727222)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000175405 SCV000226881 uncertain significance not provided 2014-12-30 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763750 SCV000894636 uncertain significance Alternating hemiplegia of childhood 1; Familial hemiplegic migraine type 2 2018-10-31 criteria provided, single submitter clinical testing

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