ClinVar Miner

Submissions for variant NM_030665.4(RAI1):c.4043C>T (p.Ala1348Val)

gnomAD frequency: 0.00027  dbSNP: rs143396390
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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) RCV000658775 SCV000229220 uncertain significance not provided 2014-06-12 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000177371 SCV000596711 benign not specified 2016-10-12 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000658775 SCV000780570 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing RAI1: BP4
GeneDx RCV000658775 SCV001881525 benign not provided 2020-03-23 criteria provided, single submitter clinical testing
Invitae RCV000658775 SCV002469810 benign not provided 2024-01-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002321704 SCV002631839 benign Inborn genetic diseases 2018-01-23 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: 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.
PreventionGenetics, part of Exact Sciences RCV003927646 SCV004745879 likely benign RAI1-related condition 2021-03-07 criteria provided, single submitter 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).
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000658775 SCV001798871 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000658775 SCV001968751 likely benign not provided no assertion criteria provided clinical testing

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