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

gnomAD frequency: 0.00153  dbSNP: rs144051476

Total submissions: 6

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
Invitae	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	2024-01-30	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000828432	SCV001145184	likely benign	not provided	2018-09-14	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003925151	SCV004744760	likely benign	POMT1-related condition	2021-01-25	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).