Submissions for variant NM_001077365.2(POMT1):c.1698+10C>A

gnomAD frequency: 0.00029  dbSNP: rs184131819

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000712816	SCV000703328	uncertain significance	not provided	2018-05-18	criteria provided, single submitter	clinical testing
GeneDx	RCV000595892	SCV000725716	likely benign	not specified	2017-12-19	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.
Athena Diagnostics	RCV000712816	SCV000843350	likely benign	not provided	2018-08-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001087695	SCV001097603	benign	Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy	2025-01-23	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004735643	SCV005348193	likely benign	POMT1-related disorder	2024-09-28	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).