ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.605C>A (p.Ala202Glu) (rs34999029)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000080300 SCV000112195 benign not specified 2013-03-28 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000080300 SCV000309695 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000080300 SCV000519692 benign not specified 2017-05-11 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 RCV000531528 SCV000649720 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000080300 SCV000711689 benign not specified 2015-01-13 criteria provided, single submitter clinical testing p.Ala202Glu in exon 7 of DYSF: This variant is not expected to have clinical sig nificance because it has been identified in 1.5% (132/8600) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs34999029).
Genetic Services Laboratory, University of Chicago RCV000080300 SCV000151034 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.

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