Submissions for variant NM_001077365.2(POMT1):c.568C>T (p.Leu190=)

gnomAD frequency: 0.00012  dbSNP: rs752931210

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000724802	SCV000331949	uncertain significance	not provided	2017-05-09	criteria provided, single submitter	clinical testing
Invitae	RCV000552385	SCV000649902	likely benign	Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy	2023-12-30	criteria provided, single submitter	clinical testing
GeneDx	RCV000402228	SCV000725911	likely benign	not specified	2017-12-22	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.
PreventionGenetics, part of Exact Sciences	RCV003947827	SCV004763700	likely benign	POMT1-related condition	2021-07-28	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).