ClinVar Miner

Submissions for variant NM_030665.4(RAI1):c.1941C>T (p.Ser647=)

gnomAD frequency: 0.00041  dbSNP: rs140198185
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724426 SCV000229199 uncertain significance not provided 2014-12-30 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000177350 SCV000596696 likely benign not specified 2015-11-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002314632 SCV000848896 likely benign Inborn genetic diseases 2017-01-26 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx RCV000724426 SCV001837132 benign not provided 2019-09-26 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000177350 SCV001880692 benign not specified 2021-01-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000724426 SCV002340110 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000724426 SCV001743481 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000724426 SCV001932880 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000724426 SCV001967213 likely benign not provided no assertion criteria provided clinical testing

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