ClinVar Miner

Submissions for variant NM_000337.6(SGCD):c.-404G>A

gnomAD frequency: 0.00016  dbSNP: rs192662989
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000259421 SCV000455446 likely benign Qualitative or quantitative defects of delta-sarcoglycan 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 and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Illumina Laboratory Services, Illumina RCV000374031 SCV000455448 likely benign Limb-girdle muscular dystrophy, recessive 2016-06-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498707 SCV002805801 likely benign Dilated cardiomyopathy 1L; Autosomal recessive limb-girdle muscular dystrophy type 2F 2021-12-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003233114 SCV003931729 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2F 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003233115 SCV003931730 likely benign Dilated cardiomyopathy 1L 2023-02-08 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004704993 SCV005226629 likely benign not provided criteria provided, single submitter not provided
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000151866 SCV000200343 not provided not specified 2013-12-05 no assertion provided clinical testing

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