ClinVar Miner

Submissions for variant NM_001194998.2(CEP152):c.4378_4379del (p.Val1460fs) (rs141600901)

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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 RCV000368310 SCV000331479 likely benign not specified 2015-12-18 criteria provided, single submitter clinical testing
Invitae RCV000973527 SCV001121289 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000973527 SCV001135079 likely benign not provided 2019-05-28 criteria provided, single submitter clinical testing
OMIM RCV000024027 SCV000045318 pathogenic Seckel syndrome 5 2011-01-01 no assertion criteria provided literature only

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