ClinVar Miner

Submissions for variant NM_000023.4(SGCA):c.1120C>T (p.Arg374Cys)

gnomAD frequency: 0.00465  dbSNP: rs35495899
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins NTD LLC (GA) RCV000153939 SCV000203557 benign not specified 2013-12-16 criteria provided, single submitter clinical testing
GeneDx RCV001704117 SCV000519932 benign not provided 2020-02-11 criteria provided, single submitter clinical testing
Invitae RCV000530608 SCV000649760 benign Autosomal recessive limb-girdle muscular dystrophy type 2D 2021-12-18 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000852724 SCV000995439 benign Cardiomyopathy 2018-11-28 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV001126446 SCV001285642 benign Sarcoglycanopathy 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.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000530608 SCV001470960 benign Autosomal recessive limb-girdle muscular dystrophy type 2D 2020-03-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV000530608 SCV002087595 benign Autosomal recessive limb-girdle muscular dystrophy type 2D 2019-12-05 no assertion criteria provided clinical testing

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