Submissions for variant NM_000337.6(SGCD):c.290G>A (p.Arg97Gln)

gnomAD frequency: 0.04292  dbSNP: rs45559835

Total submissions: 18

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000041403	SCV000051596	benign	not specified	2013-06-24	criteria provided, single submitter	research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000041403	SCV000065098	benign	not specified	2009-01-20	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000041403	SCV000110520	benign	not specified	2012-07-12	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000041403	SCV000303683	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000357029	SCV000455479	benign	Qualitative or quantitative defects of delta-sarcoglycan	2018-01-12	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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina	RCV000395779	SCV000455480	likely benign	Limb-girdle muscular dystrophy, recessive	2016-06-14	criteria provided, single submitter	clinical testing
Invitae	RCV000473682	SCV000562856	benign	Autosomal recessive limb-girdle muscular dystrophy type 2F	2024-02-01	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000473682	SCV000677480	benign	Autosomal recessive limb-girdle muscular dystrophy type 2F	2017-04-13	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000621073	SCV000739771	benign	Cardiovascular phenotype	2012-09-19	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001705691	SCV001156929	benign	not provided	2023-11-03	criteria provided, single submitter	clinical testing
GeneDx	RCV001705691	SCV001914731	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 10974018, 26968544, 28401079)
Genome-Nilou Lab	RCV000473682	SCV003931804	likely benign	Autosomal recessive limb-girdle muscular dystrophy type 2F	2023-02-08	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003233092	SCV003931805	likely benign	Dilated cardiomyopathy 1L	2023-02-08	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000041403	SCV000152721	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.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000041403	SCV001800598	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000041403	SCV001920643	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000041403	SCV001932931	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001705691	SCV001955026	likely benign	not provided		no assertion criteria provided	clinical testing