Submissions for variant NM_133642.5(LARGE1):c.309C>T (p.Ser103=)

gnomAD frequency: 0.01920  dbSNP: rs59349720

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000081180	SCV000113088	benign	not specified	2012-11-15	criteria provided, single submitter	clinical testing
GeneDx	RCV000081180	SCV000196852	benign	not specified	2014-06-25	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	RCV000081180	SCV000310642	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000544713	SCV000438174	likely benign	Muscular dystrophy-dystroglycanopathy type B6	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV000320123	SCV000438175	likely benign	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000544713	SCV000638998	benign	Muscular dystrophy-dystroglycanopathy type B6	2024-02-01	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004703226	SCV005210394	likely benign	not provided		criteria provided, single submitter	not provided
Genetic Services Laboratory, University of Chicago	RCV000081180	SCV000193514	likely benign	not specified		no assertion criteria provided	clinical testing