ClinVar Miner

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

dbSNP: rs141600901
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000368310 SCV000331479 likely benign not specified 2015-12-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000973527 SCV001121289 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Mendelics RCV000973527 SCV001135079 likely benign not provided 2019-05-28 criteria provided, single submitter clinical testing
GeneDx RCV000973527 SCV001857798 benign not provided 2020-04-07 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 21131973)
CeGaT Center for Human Genetics Tuebingen RCV000973527 SCV004129830 benign not provided 2022-07-01 criteria provided, single submitter clinical testing CEP152: BS1, BS2
OMIM RCV000024027 SCV000045318 pathogenic Seckel syndrome 5 2011-01-01 no assertion criteria provided literature only

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