ClinVar Miner

Submissions for variant NM_000337.6(SGCD):c.*7566C>T

gnomAD frequency: 0.00004  dbSNP: rs913397406
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001156647 SCV001318159 uncertain significance 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, 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.
Fulgent Genetics, Fulgent Genetics RCV002505734 SCV002816063 uncertain significance Dilated cardiomyopathy 1L; Autosomal recessive limb-girdle muscular dystrophy type 2F 2021-08-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003233979 SCV003932042 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2F 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003233980 SCV003932045 uncertain significance Dilated cardiomyopathy 1L 2023-02-08 criteria provided, single submitter clinical testing

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