Submissions for variant NM_000070.3(CAPN3):c.96T>C (p.Thr32=)

gnomAD frequency: 0.09551  dbSNP: rs1801496

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000078104	SCV000109942	benign	not specified	2016-11-01	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000078104	SCV000150505	benign	not specified	2013-08-15	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000078104	SCV000301901	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000365906	SCV000390990	likely benign	Limb-Girdle Muscular Dystrophy, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000265929	SCV000390991	benign	Autosomal recessive limb-girdle muscular dystrophy type 2A	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.
GeneDx	RCV000078104	SCV000519341	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 Inc	RCV000710096	SCV000677228	benign	not provided	2017-04-28	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000078104	SCV000711702	benign	not specified	2015-01-13	criteria provided, single submitter	clinical testing	p.Thr32Thr in exon 1 of CAPN3: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 13.9% (611/4406) of African American chromosomes from a broad population by the NHLBI Exome Sequenc ing Project (http://evs.gs.washington.edu/EVS; dbSNP rs1801496).
Invitae	RCV000265929	SCV001718473	benign	Autosomal recessive limb-girdle muscular dystrophy type 2A	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001533471	SCV001750119	benign	Muscular dystrophy, limb-girdle, autosomal dominant 4	2021-07-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000265929	SCV001750120	benign	Autosomal recessive limb-girdle muscular dystrophy type 2A	2021-07-01	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV000265929	SCV001461300	benign	Autosomal recessive limb-girdle muscular dystrophy type 2A	2020-09-16	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000078104	SCV001919770	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000078104	SCV001926700	benign	not specified		no assertion criteria provided	clinical testing