ClinVar Miner

Submissions for variant NM_000117.3(EMD):c.495G>A (p.Thr165=) (rs151074632)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000035109 SCV000058749 likely benign not specified 2012-03-06 criteria provided, single submitter clinical testing Thr165Thr in exon 6 of EMD: This variant is not expected to have clinical signif icance because it does not alter an amino acid residue and is not located within the splice consensus sequence. This variant has been identified in 0.1% (8/5545 ) of European American chromosomes from a broad population by the NHLBI Exome Se quencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs151074632). Thr165T hr in exon 6 of EMD (rs151074632; allele frequency = 0.1%, 8/5545) **
Invitae RCV000228467 SCV000283519 likely benign Emery-Dreifuss muscular dystrophy 1, X-linked 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000248685 SCV000318933 likely benign Cardiovascular phenotype 2017-09-08 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000035109 SCV000342648 likely benign not specified 2017-08-25 criteria provided, single submitter clinical testing
GeneDx RCV000035109 SCV000517429 likely benign not specified 2018-02-23 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.
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000228467 SCV000734766 likely benign Emery-Dreifuss muscular dystrophy 1, X-linked no assertion criteria provided clinical testing

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