ClinVar Miner

Submissions for variant NM_001194998.2(CEP152):c.2000A>G (p.Lys667Arg)

gnomAD frequency: 0.00450  dbSNP: rs200879436
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000145604 SCV000192701 likely benign not specified 2015-04-14 criteria provided, single submitter clinical testing
GeneDx RCV000968712 SCV000516610 benign not provided 2019-10-14 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 21131973, 26206375, 25533962)
Labcorp Genetics (formerly Invitae), Labcorp RCV000968712 SCV001116182 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000968712 SCV005212695 likely benign not provided criteria provided, single submitter not provided
OMIM RCV000024028 SCV000045319 pathogenic Seckel syndrome 5 2011-01-01 no assertion criteria provided literature only

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