Submissions for variant NM_000070.3(CAPN3):c.984C>T (p.Cys328=)

gnomAD frequency: 0.00600  dbSNP: rs28364441

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000152921	SCV000202350	benign	not specified	2014-01-27	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000152921	SCV000301902	likely benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000152921	SCV000521446	benign	not specified	2016-11-18	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.
Invitae	RCV000538067	SCV000645521	benign	Autosomal recessive limb-girdle muscular dystrophy type 2A	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000538067	SCV001277568	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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Fulgent Genetics, Fulgent Genetics	RCV002505162	SCV002808111	benign	Autosomal recessive limb-girdle muscular dystrophy type 2A; Muscular dystrophy, limb-girdle, autosomal dominant 4	2021-12-08	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV003242993	SCV003937600	likely benign	Inborn genetic diseases	2023-05-23	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen	RCV001573447	SCV004136421	benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	CAPN3: BP4, BP7, BS1, BS2
Natera, Inc.	RCV000538067	SCV001454332	benign	Autosomal recessive limb-girdle muscular dystrophy type 2A	2020-09-16	no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573447	SCV001799351	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001573447	SCV001928886	likely benign	not provided		no assertion criteria provided	clinical testing