ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.552G>A (p.Thr184=)

gnomAD frequency: 0.00012  dbSNP: rs147808529
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000605183 SCV000723059 likely benign not specified 2017-09-19 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 RCV001079344 SCV000766737 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2A 2024-01-29 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000730156 SCV000857871 uncertain significance not provided 2017-11-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000730156 SCV001149395 likely benign not provided 2017-12-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001079344 SCV001275825 uncertain significance 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Genome-Nilou Lab RCV001079344 SCV001653441 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2A 2021-05-18 criteria provided, single submitter clinical testing

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