Submissions for variant NM_001077365.2(POMT1):c.2168G>A (p.Arg723Gln)

gnomAD frequency: 0.00153  dbSNP: rs144051476

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000259157	SCV000152358	likely benign	not specified	2015-12-02	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000259157	SCV000227683	benign	not specified	2014-11-20	criteria provided, single submitter	clinical testing
GeneDx	RCV000828432	SCV000970120	likely benign	not provided	2020-10-24	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001088136	SCV001012185	likely benign	Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy	2025-02-03	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000828432	SCV001145184	likely benign	not provided	2018-09-14	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000828432	SCV005225939	likely benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV004529977	SCV004744760	likely benign	POMT1-related disorder	2021-01-25	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).