Submissions for variant NM_030665.4(RAI1):c.214G>A (p.Ala72Thr)

gnomAD frequency: 0.00016  dbSNP: rs370671656

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000192805	SCV000248660	benign	not specified	2019-04-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002317703	SCV000850699	likely benign	Inborn genetic diseases	2020-03-22	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.
Athena Diagnostics Inc	RCV000992741	SCV001145251	benign	not provided	2018-10-02	criteria provided, single submitter	clinical testing
GeneDx	RCV000992741	SCV001885872	benign	not provided	2019-09-09	criteria provided, single submitter	clinical testing
Invitae	RCV000992741	SCV002354284	likely benign	not provided	2023-12-30	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003907702	SCV004720389	likely benign	RAI1-related condition	2020-02-07	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).