ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.495C>T (p.Phe165=)

gnomAD frequency: 0.00613  dbSNP: rs1801324
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000152919 SCV000202347 benign not specified 2014-01-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000152919 SCV000301889 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000152919 SCV000521445 benign not specified 2016-09-29 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000559703 SCV000645503 benign Autosomal recessive limb-girdle muscular dystrophy type 2A 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000559703 SCV001274230 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 RCV003407572 SCV004136420 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing CAPN3: BP4, BP7, BS2
Breakthrough Genomics, Breakthrough Genomics RCV003407572 SCV005214516 likely benign not provided criteria provided, single submitter not provided

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