ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.479C>G (p.Ala160Gly) (rs17592)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078098 SCV000109936 benign not specified 2013-03-01 criteria provided, single submitter clinical testing
GeneDx RCV000078098 SCV000520877 benign not specified 2016-07-07 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.
Genetic Services Laboratory, University of Chicago RCV000078098 SCV000150498 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Illumina Clinical Services Laboratory,Illumina RCV000260072 SCV000390994 likely benign Limb-girdle muscular dystrophy, type 2A 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000317357 SCV000390995 likely benign Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000260072 SCV000645502 benign Limb-girdle muscular dystrophy, type 2A 2017-12-08 criteria provided, single submitter clinical testing
PreventionGenetics RCV000078098 SCV000301888 benign not specified criteria provided, single submitter clinical testing
SIB Swiss Institute of Bioinformatics RCV000260072 SCV000803458 benign Limb-girdle muscular dystrophy, type 2A 2018-05-31 criteria provided, single submitter curation This variant is interpreted as a Benign, for Muscular dystrophy, limb-girdle, type 2a, in Autosomal Recessive manner. The following ACMG Tag(s) were applied: BS1 => Allele frequency is greater than expected for disorder. BS2 => Observed in a healthy adult individual for a recessive (homozygous), dominant (heterozygous), or X-linked (hemizygous) disorder, with full penetrance expected at an early age.

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