ClinVar Miner

Submissions for variant NM_181741.4(ORC4):c.353T>C (p.Leu118Ser)

gnomAD frequency: 0.00143  dbSNP: rs61750441
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192512 SCV000248409 uncertain significance not specified 2014-12-05 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000725131 SCV000334344 uncertain significance not provided 2015-09-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000725131 SCV002349782 benign not provided 2024-01-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003937704 SCV004753003 likely benign ORC4-related disorder 2023-07-29 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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