Submissions for variant NM_001130987.2(DYSF):c.3757-12C>T

gnomAD frequency: 0.00943  dbSNP: rs114968209

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000080276	SCV000112171	benign	not specified	2012-10-17	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000080276	SCV000269052	benign	not specified	2015-01-13	criteria provided, single submitter	clinical testing	c.3757-12C>T in intron 33 of DYSF: This variant is not expected to have clinical significance because it has been identified in 1.7% (73/4406) of African Americ an chromosomes from a broad population by the NHLBI Exome Sequencing Project (ht tp://evs.gs.washington.edu/EVS; dbSNP rs114968209).
PreventionGenetics, part of Exact Sciences	RCV000080276	SCV000309674	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000080276	SCV000525221	benign	not specified	2016-03-03	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.
Illumina Laboratory Services, Illumina	RCV001142641	SCV001303108	likely benign	Qualitative or quantitative defects of dysferlin	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	RCV001142641	SCV002395835	benign	Qualitative or quantitative defects of dysferlin	2025-01-29	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001698961	SCV005257510	likely benign	not provided		criteria provided, single submitter	not provided
Clinical Genetics, Academic Medical Center	RCV001698961	SCV001921475	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000080276	SCV001932031	benign	not specified		no assertion criteria provided	clinical testing