ClinVar Miner

Submissions for variant NM_030665.4(RAI1):c.284C>T (p.Pro95Leu)

gnomAD frequency: 0.00006  dbSNP: rs370882080
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001710300 SCV001938242 benign not provided 2020-04-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001710300 SCV002152310 benign not provided 2024-12-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002440841 SCV002752715 benign Inborn genetic diseases 2018-12-03 criteria provided, single submitter clinical testing This alteration is classified as 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.
PreventionGenetics, part of Exact Sciences RCV003910969 SCV004719838 likely benign RAI1-related disorder 2022-03-17 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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