Submissions for variant NM_000070.3(CAPN3):c.318C>T (p.Cys106=)

gnomAD frequency: 0.00495  dbSNP: rs117609395

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000078097	SCV000109935	benign	not specified	2014-03-21	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000078097	SCV000301884	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000545237	SCV000525495	likely benign	not provided	2020-11-12	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 10330340, 16141003)
Labcorp Genetics (formerly Invitae), Labcorp	RCV001082487	SCV000645499	benign	Autosomal recessive limb-girdle muscular dystrophy type 2A	2025-02-03	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000078097	SCV000711703	benign	not specified	2015-01-13	criteria provided, single submitter	clinical testing	p.Cys106Cys in exon 2 of CAPN3: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 0.9% (78/8598) of European American chromosomes from a broad population by the NHLBI Exome Sequenc ing Project (http://evs.gs.washington.edu/EVS; dbSNP rs117609395).
Athena Diagnostics	RCV000078097	SCV001143419	benign	not specified	2023-10-18	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001082487	SCV001274227	likely benign	Autosomal recessive limb-girdle muscular dystrophy type 2A	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
CeGaT Center for Human Genetics Tuebingen	RCV000545237	SCV001747730	likely benign	not provided	2024-06-01	criteria provided, single submitter	clinical testing	CAPN3: BP4, BP7, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV000545237	SCV005214512	likely benign	not provided		criteria provided, single submitter	not provided
Clinical Genetics, Academic Medical Center	RCV000545237	SCV002034513	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000078097	SCV002035791	benign	not specified		no assertion criteria provided	clinical testing
Natera, Inc.	RCV001082487	SCV002094439	likely benign	Autosomal recessive limb-girdle muscular dystrophy type 2A	2019-12-03	no assertion criteria provided	clinical testing