Submissions for variant NM_001130987.2(DYSF):c.3588C>T (p.Ile1196=)

dbSNP: rs79899601

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000116928	SCV000331993	benign	not specified	2015-07-10	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000307614	SCV000431794	uncertain significance	Miyoshi myopathy	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000343725	SCV000431795	uncertain significance	Limb-Girdle Muscular Dystrophy, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000116928	SCV000523585	benign	not specified	2016-09-06	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	RCV001082923	SCV000649664	benign	Qualitative or quantitative defects of dysferlin	2024-01-31	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000711556	SCV000841935	benign	not provided	2017-11-24	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001082923	SCV001303105	uncertain significance	Qualitative or quantitative defects of dysferlin	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Genome-Nilou Lab	RCV001449951	SCV001653464	likely benign	Miyoshi muscular dystrophy 1	2021-05-18	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000711556	SCV004011177	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	DYSF: BS1, BS2
Genetic Services Laboratory, University of Chicago	RCV000116928	SCV000151024	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.	RCV001276445	SCV001462792	benign	Autosomal recessive limb-girdle muscular dystrophy type 2B	2020-09-16	no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000711556	SCV001797381	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000116928	SCV001925523	benign	not specified		no assertion criteria provided	clinical testing