ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.386G>A (p.Gly129Glu) (rs34997054)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000210633 SCV000262981 benign Inborn genetic diseases 2013-11-14 criteria provided, single submitter clinical testing
Counsyl RCV000675166 SCV000800786 likely benign Limb-girdle muscular dystrophy, type 2B 2017-09-12 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000080277 SCV000331938 benign not specified 2015-07-01 criteria provided, single submitter clinical testing
GeneDx RCV000080277 SCV000519409 benign not specified 2016-09-05 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.
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000499917 SCV000588370 likely pathogenic Muscular dystrophy 2017-06-18 criteria provided, single submitter clinical testing
Invitae RCV000527027 SCV000649671 benign Dysferlinopathy 2018-01-11 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000080277 SCV000269053 benign not specified 2016-03-03 criteria provided, single submitter clinical testing p.Gly129Glu in exon 5 of DYSF: This variant is not expected to have clinical sig nificance because it has been identified in 1.8% (162/8872) of European chromoso mes, including 3 homozygotes by the Exome Aggregation Consortium (ExAC, http://e xac.broadinstitute.org; dbSNP rs34997054).
PreventionGenetics RCV000080277 SCV000309677 likely benign not specified criteria provided, single submitter clinical testing

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