ClinVar Miner

Submissions for variant NM_000232.5(SGCB):c.799C>T (p.Arg267Cys)

gnomAD frequency: 0.00012  dbSNP: rs200761715
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000284183 SCV000334852 benign not specified 2015-09-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000386817 SCV000449663 benign Qualitative or quantitative defects of beta-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 RCV000295248 SCV000449664 uncertain significance Limb-girdle muscular dystrophy, recessive 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000284183 SCV000615221 likely benign not specified 2016-09-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000534489 SCV000642386 benign Autosomal recessive limb-girdle muscular dystrophy type 2E 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000284183 SCV000714385 benign not specified 2017-12-19 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.
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego RCV000852968 SCV000995717 likely benign Hypertrophic cardiomyopathy 2017-07-06 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000534489 SCV001737267 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2E 2021-05-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV000534489 SCV002082974 benign Autosomal recessive limb-girdle muscular dystrophy type 2E 2020-01-13 no assertion criteria provided clinical testing

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