Submissions for variant NM_000337.6(SGCD):c.817C>T (p.Leu273=)

gnomAD frequency: 0.00016  dbSNP: rs375029639

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000550764	SCV000638180	likely benign	Autosomal recessive limb-girdle muscular dystrophy type 2F	2025-01-24	criteria provided, single submitter	clinical testing
GeneDx	RCV001722472	SCV000727366	likely benign	not provided	2020-10-27	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002431603	SCV002681289	likely benign	Inborn genetic diseases	2022-03-03	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Genome-Nilou Lab	RCV000550764	SCV003931925	likely benign	Autosomal recessive limb-girdle muscular dystrophy type 2F	2023-02-08	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003233707	SCV003931926	likely benign	Dilated cardiomyopathy 1L	2023-02-08	criteria provided, single submitter	clinical testing