Submissions for variant NM_000337.6(SGCD):c.*3962G>A

gnomAD frequency: 0.08205  dbSNP: rs56182215

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000289607	SCV000455638	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 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	RCV000351507	SCV000455639	likely benign	Limb-girdle muscular dystrophy, recessive	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV001675860	SCV001895572	benign	not provided	2021-05-20	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003233581	SCV003931983	likely benign	Autosomal recessive limb-girdle muscular dystrophy type 2F	2023-02-08	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003233582	SCV003931984	likely benign	Dilated cardiomyopathy 1L	2023-02-08	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001675860	SCV005220303	likely benign	not provided		criteria provided, single submitter	not provided