ClinVar Miner

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

gnomAD frequency: 0.00484  dbSNP: rs117609395
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Total submissions: 11
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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,PreventionGenetics 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)
Invitae RCV001082487 SCV000645499 benign Autosomal recessive limb-girdle muscular dystrophy type 2A 2021-12-18 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 Inc RCV000545237 SCV001143419 benign not provided 2018-10-26 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 2021-03-01 criteria provided, single submitter clinical testing
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

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