ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.5265C>T (p.Pro1755=) (rs145515413)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000216201 SCV000268964 benign not specified 2015-07-29 criteria provided, single submitter clinical testing p.Pro1755Pro in exon 37 of DMD: 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 0.4% (33/8515) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broad; dbSNP rs145515413).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000216201 SCV000335437 likely benign not specified 2015-09-15 criteria provided, single submitter clinical testing
Invitae RCV000460598 SCV000560814 benign Duchenne muscular dystrophy 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000216201 SCV000714568 likely benign not specified 2018-01-12 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.
Ambry Genetics RCV000622204 SCV000737011 likely benign Cardiovascular phenotype 2016-11-08 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign

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