Submissions for variant NM_000231.3(SGCG):c.860A>G (p.Asn287Ser)

gnomAD frequency: 0.83747  dbSNP: rs1800354

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000153942	SCV000203560	benign	not specified	2013-07-29	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000153942	SCV000269826	benign	not specified	2014-11-26	criteria provided, single submitter	clinical testing	This is a RefSeq error. The reference base (c.860A) is the minor allele. This al lele (A) has been identified in 13% (1142/8600) of European American chromosomes and 27% (1185/4406) of African American chromosomes by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS/; dbSNP rs1800354) and thus meets c riteria to be classified as benign.
Illumina Laboratory Services, Illumina	RCV000348757	SCV000483445	benign	Charlevoix-Saguenay spastic ataxia	2016-06-14	criteria provided, single submitter	clinical testing
Mendelics	RCV000988963	SCV001138915	benign	Autosomal recessive limb-girdle muscular dystrophy type 2C	2019-05-28	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000988963	SCV001158898	benign	Autosomal recessive limb-girdle muscular dystrophy type 2C	2023-11-29	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000988963	SCV001733013	benign	Autosomal recessive limb-girdle muscular dystrophy type 2C	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000988963	SCV001750099	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	RCV000153942	SCV002051142	benign	not specified	2021-12-03	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004708066	SCV005230841	benign	not provided		criteria provided, single submitter	not provided
Clinical Genetics, Academic Medical Center	RCV000153942	SCV001923974	benign	not specified		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000153942	SCV001963268	benign	not specified		no assertion criteria provided	clinical testing
Natera, Inc.	RCV000988963	SCV002086118	benign	Autosomal recessive limb-girdle muscular dystrophy type 2C	2019-11-16	no assertion criteria provided	clinical testing