Submissions for variant NM_030665.4(RAI1):c.4652C>T (p.Ser1551Leu)

gnomAD frequency: 0.00032  dbSNP: rs202158738

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Athena Diagnostics	RCV000518040	SCV000614851	uncertain significance	not specified	2017-02-20	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002314903	SCV000848191	likely benign	Inborn genetic diseases	2018-07-12	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	RCV001637062	SCV001849195	benign	not provided	2020-01-27	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001637062	SCV002410119	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003915458	SCV004733177	likely benign	RAI1-related disorder	2020-04-30	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).