Submissions for variant NM_000231.3(SGCG):c.705T>C (p.Leu235=)

gnomAD frequency: 0.60006  dbSNP: rs1800353

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000078407	SCV000110253	benign	not specified	2013-07-29	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000078407	SCV000152728	benign	not specified	2013-08-15	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000078407	SCV000269825	benign	not specified	2014-11-26	criteria provided, single submitter	clinical testing	This is a RefSeq error. The reference base (c.705T) is the minor allele. This al lele (T) has been identified in 33% (2878/8600) of European American chromosomes and 60% (2634/4406) of African American chromosomes by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS/; dbSNP rs1800353) and thus meets c riteria to be classified as benign.
PreventionGenetics, part of Exact Sciences	RCV000078407	SCV000303097	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000373060	SCV000383256	benign	Autosomal recessive limb-girdle muscular dystrophy type 2C	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000278365	SCV000383257	benign	Limb-girdle muscular dystrophy, recessive	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000293880	SCV000483444	likely benign	Charlevoix-Saguenay spastic ataxia	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000078407	SCV000518062	benign	not specified	2016-01-07	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Athena Diagnostics	RCV000710216	SCV000677487	benign	not provided	2017-04-13	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001113157	SCV001270907	benign	Sarcoglycanopathy	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000373060	SCV001725024	benign	Autosomal recessive limb-girdle muscular dystrophy type 2C	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000373060	SCV001750082	benign	Autosomal recessive limb-girdle muscular dystrophy type 2C	2021-07-01	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000078407	SCV004241036	benign	not specified	2023-12-13	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000710216	SCV005219329	likely benign	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV000373060	SCV001455354	benign	Autosomal recessive limb-girdle muscular dystrophy type 2C	2020-09-16	no assertion criteria provided	clinical testing