ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.1785G>A (p.Ala595=) (rs35984374)

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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 RCV000080242 SCV000112137 benign not specified 2012-07-12 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000080242 SCV000269047 benign not specified 2015-01-13 criteria provided, single submitter clinical testing p.Ala595Ala in exon 19 of DYSF: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 2.0% (168/8600) of European American chromosomes from a broad population by the NHLBI Exome Sequen cing Project (http://evs.gs.washington.edu/EVS; dbSNP rs35984374).
PreventionGenetics,PreventionGenetics RCV000080242 SCV000309647 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000080242 SCV000519797 benign not specified 2016-08-17 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 RCV000542679 SCV000649612 benign Dysferlinopathy 2017-08-01 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000080242 SCV000151015 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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