ClinVar Miner

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

gnomAD frequency: 0.83747  dbSNP: rs1800354
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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breakthrough Genomics, Breakthrough Genomics RCV004708066 SCV005230841 benign not provided criteria provided, single submitter not provided
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000153942 SCV002051142 benign not specified 2021-12-03 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
Labcorp Genetics (formerly Invitae), Labcorp RCV000988963 SCV001733013 benign Autosomal recessive limb-girdle muscular dystrophy type 2C 2025-02-03 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
Mendelics RCV000988963 SCV001138915 benign Autosomal recessive limb-girdle muscular dystrophy type 2C 2019-05-28 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000348757 SCV000483445 benign Charlevoix-Saguenay spastic ataxia 2016-06-14 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.
Eurofins Ntd Llc (ga) RCV000153942 SCV000203560 benign not specified 2013-07-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV000988963 SCV002086118 benign Autosomal recessive limb-girdle muscular dystrophy type 2C 2019-11-16 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
Clinical Genetics, Academic Medical Center RCV000153942 SCV001923974 benign not specified no assertion criteria provided clinical testing

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