ClinVar Miner

Submissions for variant NM_020361.5(CPA6):c.505T>C (p.Tyr169His) (rs201643526)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000310016 SCV000474751 uncertain significance Familial temporal lobe epilepsy 2 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000540795 SCV000651980 likely benign Febrile seizures, familial, 11 2017-06-03 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000711313 SCV000841654 uncertain significance not provided 2017-09-13 criteria provided, single submitter clinical testing

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