Submissions for variant NM_000475.5(NR0B1):c.376G>A (p.Val126Met)

gnomAD frequency: 0.00068  dbSNP: rs193205940

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center	RCV000490511	SCV000267426	uncertain significance	Congenital adrenal hypoplasia, X-linked	2016-03-18	criteria provided, single submitter	reference population
GeneDx	RCV000614813	SCV000730536	benign	not specified	2017-03-01	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000864291	SCV001005073	benign	Congenital adrenal hypoplasia, X-linked; 46,XY sex reversal 2	2024-01-31	criteria provided, single submitter	clinical testing
Mendelics	RCV000490511	SCV001141569	benign	Congenital adrenal hypoplasia, X-linked	2019-05-28	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001574018	SCV004164699	benign	not provided	2022-11-01	criteria provided, single submitter	clinical testing	NR0B1: BS1, BS2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001574018	SCV001800706	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000614813	SCV001971719	benign	not specified		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004530263	SCV004755195	likely benign	NR0B1-related disorder	2020-06-22	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).