ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.1465G>A (p.Glu489Lys) (rs61740288)

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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 RCV000080233 SCV000112128 benign not specified 2012-11-02 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000080233 SCV000309643 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000080233 SCV000512915 likely benign not specified 2017-09-29 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.
Athena Diagnostics Inc RCV000710125 SCV000613180 benign not provided 2017-10-12 criteria provided, single submitter clinical testing
Invitae RCV000550203 SCV000649604 benign Dysferlinopathy 2017-08-07 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000080233 SCV000151013 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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