Submissions for variant NM_001077365.2(POMT1):c.1932C>T (p.Tyr644=)

gnomAD frequency: 0.00181  dbSNP: rs146512619

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000315260	SCV000336524	likely benign	not specified	2015-10-23	criteria provided, single submitter	clinical testing
Invitae	RCV001082007	SCV000649889	benign	Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy	2024-01-27	criteria provided, single submitter	clinical testing
GeneDx	RCV000712822	SCV000732887	likely benign	not provided	2020-03-23	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000712822	SCV000843356	benign	not provided	2018-03-23	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003939984	SCV004755244	likely benign	FAM157B-related condition	2020-05-04	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).
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000712822	SCV002035746	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000712822	SCV002037712	likely benign	not provided		no assertion criteria provided	clinical testing