ClinVar Miner

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

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Total submissions: 5
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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 RCV000023776 SCV000651986 benign Febrile seizures, familial, 11 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000023776 SCV001137642 uncertain significance Febrile seizures, familial, 11 2019-05-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001163570 SCV001325622 likely benign Epilepsy, familial temporal lobe, 5 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
OMIM RCV000023776 SCV000045067 pathogenic Febrile seizures, familial, 11 2012-01-01 no assertion criteria provided literature only

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