Submissions for variant NM_080632.3(UPF3B):c.1118G>A (p.Arg373His)

gnomAD frequency: 0.00013  dbSNP: rs146785878

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Mayo Clinic Laboratories, Mayo Clinic	RCV000660377	SCV000782452	uncertain significance	Syndromic X-linked intellectual disability 14	2016-05-03	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV003163042	SCV003888696	likely benign	Inborn genetic diseases	2023-03-06	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000660377	SCV004508850	likely benign	Syndromic X-linked intellectual disability 14	2023-11-07	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004752985	SCV005357724	likely benign	UPF3B-related disorder	2024-04-23	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).