ClinVar Miner

Submissions for variant NM_020361.5(CPA6):c.809C>T (p.Ala270Val) (rs114402678)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000180353 SCV000232766 uncertain significance not provided 2018-07-05 criteria provided, single submitter clinical testing
Invitae RCV000180353 SCV000651986 benign not provided 2019-02-25 criteria provided, single submitter clinical testing
OMIM RCV000023776 SCV000045067 pathogenic Febrile seizures, familial, 11 2012-01-01 no assertion criteria provided literature only

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