ClinVar Miner

Submissions for variant NM_020361.4(CPA6):c.799G>A (p.Gly267Arg) (rs61738009)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000711316 SCV000841657 uncertain significance not provided 2017-12-08 criteria provided, single submitter clinical testing
Bioinformatics Core,Luxembourg Center for Systems Biomedicine RCV000656014 SCV000588290 pathogenic Rolandic epilepsy 2017-01-01 no assertion criteria provided case-control CAADphred>15
Claritas Genomics RCV000449611 SCV000537841 uncertain significance Global developmental delay 2017-02-21 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000711316 SCV000331966 uncertain significance not provided 2018-05-25 criteria provided, single submitter clinical testing
Invitae RCV000530159 SCV000651985 likely benign Febrile seizures, familial, 11 2017-10-27 criteria provided, single submitter clinical testing
OMIM RCV000023777 SCV000045068 pathogenic Epilepsy, familial temporal lobe, 5 2012-12-14 no assertion criteria provided literature only

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