ClinVar Miner

Submissions for variant NM_020361.5(CPA6):c.975A>G (p.Ala325=) (rs138313759)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000387866 SCV000336697 benign not specified 2015-11-09 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000338211 SCV000474743 uncertain significance Familial temporal lobe epilepsy 2 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710113 SCV000613020 benign not provided 2017-06-23 criteria provided, single submitter clinical testing
Invitae RCV000710113 SCV000651989 benign not provided 2019-03-01 criteria provided, single submitter clinical testing

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