Submissions for variant NM_015295.3(SMCHD1):c.1419A>G (p.Glu473=)

gnomAD frequency: 0.00426  dbSNP: rs117771893

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000242888	SCV000333985	benign	not specified	2015-09-07	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000639714	SCV000761295	benign	Facioscapulohumeral muscular dystrophy 2	2025-01-29	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000242888	SCV001476127	benign	not specified	2020-02-25	criteria provided, single submitter	clinical testing
GeneDx	RCV001786350	SCV002028626	likely benign	not provided	2021-05-24	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001786350	SCV004144727	likely benign	not provided	2023-08-01	criteria provided, single submitter	clinical testing	SMCHD1: BP4, BP7, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV001786350	SCV005214829	likely benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV003891951	SCV000312506	benign	SMCHD1-related disorder	2019-04-10	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).