ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.1931T>C (p.Met644Thr) (rs141867897)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000274204 SCV000333057 likely benign not specified 2017-06-22 criteria provided, single submitter clinical testing
GeneDx RCV000710126 SCV000527087 likely benign not provided 2020-07-01 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710126 SCV000613187 uncertain significance not provided 2018-08-31 criteria provided, single submitter clinical testing
Invitae RCV001084090 SCV000649616 likely benign Qualitative or quantitative defects of dysferlin 2020-12-02 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000710126 SCV001152334 uncertain significance not provided 2019-02-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001084090 SCV001297641 uncertain significance Qualitative or quantitative defects of dysferlin 2018-01-12 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.
Baylor Genetics RCV001329088 SCV001520405 uncertain significance Miyoshi muscular dystrophy 1 2019-02-22 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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