Submissions for variant NM_000337.6(SGCD):c.*6518C>T

dbSNP: rs1165157961

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV001152862	SCV001314098	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	RCV002497576	SCV002812148	uncertain significance	Dilated cardiomyopathy 1L; Autosomal recessive limb-girdle muscular dystrophy type 2F	2021-07-09	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003233955	SCV003932020	uncertain significance	Autosomal recessive limb-girdle muscular dystrophy type 2F	2023-02-08	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003233956	SCV003932022	uncertain significance	Dilated cardiomyopathy 1L	2023-02-08	criteria provided, single submitter	clinical testing