ClinVar Miner

Submissions for variant NM_181741.4(ORC4):c.857C>T (p.Ala286Val)

gnomAD frequency: 0.00307  dbSNP: rs75002266
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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 RCV000500250 SCV000596176 benign not specified 2018-06-08 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000500250 SCV000700680 likely benign not specified 2016-11-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000893524 SCV001037466 likely benign not provided 2025-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000893524 SCV001152415 likely benign not provided 2025-02-01 criteria provided, single submitter clinical testing ORC4: BP4, BS2
GeneDx RCV000893524 SCV001790241 likely benign not provided 2015-03-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27884173, 20010161)

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