ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.1518C>T (p.Ile506=) (rs34387018)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000116926 SCV000309644 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000116926 SCV000527063 benign not specified 2016-07-20 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 RCV000528169 SCV000649608 benign Dysferlinopathy 2018-01-02 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000711547 SCV000841926 benign not provided 2018-02-13 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000116926 SCV000151014 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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