ClinVar Miner

Submissions for variant NM_020361.5(CPA6):c.1077G>A (p.Gln359=) (rs143536122)

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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 RCV000386783 SCV000474741 uncertain significance Familial temporal lobe epilepsy 2 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000527409 SCV000651976 benign not provided 2019-02-06 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000597566 SCV000702775 benign not specified 2016-11-03 criteria provided, single submitter clinical testing

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