Submissions for variant NM_013382.7(POMT2):c.924-10C>T

gnomAD frequency: 0.00258  dbSNP: rs142122657

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000081577	SCV000113508	benign	not specified	2012-10-17	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000081577	SCV000248594	likely benign	not specified	2014-07-25	criteria provided, single submitter	clinical testing
GeneDx	RCV000081577	SCV000519996	likely benign	not specified	2017-12-26	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000553099	SCV000649948	benign	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2; Autosomal recessive limb-girdle muscular dystrophy type 2N	2024-01-27	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000081577	SCV001475409	benign	not specified	2020-07-17	criteria provided, single submitter	clinical testing