Submissions for variant NM_030665.4(RAI1):c.4438A>G (p.Arg1480Gly)

gnomAD frequency: 0.00053  dbSNP: rs139684843

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000177367	SCV000229216	benign	not specified	2015-04-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001651043	SCV001867409	benign	not provided	2021-03-09	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001651043	SCV002406699	benign	not provided	2025-01-25	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002326973	SCV002632579	likely benign	Inborn genetic diseases	2018-05-02	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.
CeGaT Center for Human Genetics Tuebingen	RCV001651043	SCV004142362	likely benign	not provided	2024-03-01	criteria provided, single submitter	clinical testing	RAI1: BP4, BS1
Breakthrough Genomics, Breakthrough Genomics	RCV001651043	SCV005248528	benign	not provided		criteria provided, single submitter	not provided