Submissions for variant NM_001077365.2(POMT1):c.1149C>T (p.His383=)

gnomAD frequency: 0.00009  dbSNP: rs202121299

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000724838	SCV000331986	uncertain significance	not provided	2015-06-29	criteria provided, single submitter	clinical testing
GeneDx	RCV000724838	SCV000514250	likely benign	not provided	2020-10-08	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000394979	SCV000596534	likely benign	not specified	2015-12-03	criteria provided, single submitter	clinical testing
Invitae	RCV001085734	SCV000769982	benign	Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy	2024-01-28	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000724838	SCV001145176	benign	not provided	2019-06-06	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000724838	SCV001502105	likely benign	not provided	2024-03-01	criteria provided, single submitter	clinical testing	POMT1: BP4, BP7, BS2
PreventionGenetics, part of Exact Sciences	RCV004542979	SCV004761864	likely benign	POMT1-related disorder	2022-04-27	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)	RCV000724838	SCV002036715	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000724838	SCV002037664	likely benign	not provided		no assertion criteria provided	clinical testing