Submissions for variant NM_001130987.2(DYSF):c.605C>A (p.Ala202Glu)

dbSNP: rs34999029

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000080300	SCV000112195	benign	not specified	2013-03-28	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000080300	SCV000309695	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000080300	SCV000519692	benign	not specified	2017-05-11	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.
Invitae	RCV000531528	SCV000649720	benign	Qualitative or quantitative defects of dysferlin	2024-01-31	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000080300	SCV000711689	benign	not specified	2015-01-13	criteria provided, single submitter	clinical testing	p.Ala202Glu in exon 7 of DYSF: This variant is not expected to have clinical sig nificance because it has been identified in 1.5% (132/8600) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs34999029).
Illumina Laboratory Services, Illumina	RCV000531528	SCV001300714	uncertain significance	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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Genome-Nilou Lab	RCV001449921	SCV001653320	likely benign	Miyoshi muscular dystrophy 1	2021-05-18	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000080300	SCV002103694	likely benign	not specified	2022-02-18	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001699034	SCV002822663	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	DYSF: BP4, BS1, BS2
Genetic Services Laboratory, University of Chicago	RCV000080300	SCV000151034	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Natera, Inc.	RCV001273964	SCV001457600	benign	Autosomal recessive limb-girdle muscular dystrophy type 2B	2020-09-16	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001699034	SCV001920321	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001699034	SCV001926883	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001699034	SCV002035786	likely benign	not provided		no assertion criteria provided	clinical testing