ClinVar Miner

Submissions for variant NM_004006.2(DMD):c.1513G>C (p.Val505Leu) (rs140340626)

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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 RCV000080457 SCV000112359 benign not specified 2013-05-31 criteria provided, single submitter clinical testing
GeneDx RCV000080457 SCV000235827 likely benign not specified 2017-11-27 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 RCV000463358 SCV000560863 likely benign Duchenne muscular dystrophy 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618933 SCV000736222 likely benign Cardiovascular phenotype 2019-03-29 criteria provided, single submitter clinical testing Subpopulation frequency in support of benign classification;In silico models in agreement (benign)
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000853045 SCV000995802 benign Restrictive cardiomyopathy 2018-01-03 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001167509 SCV001330016 benign Dilated cardiomyopathy 3B 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.

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