ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.7521C>T (p.Asn2507=) (rs112516305)

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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 RCV000725558 SCV000337772 uncertain significance not provided 2017-12-07 criteria provided, single submitter clinical testing
GeneDx RCV000725558 SCV000512811 likely benign not provided 2018-10-25 criteria provided, single submitter clinical testing
Invitae RCV001083787 SCV000560824 benign Duchenne muscular dystrophy 2020-12-03 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000304326 SCV000711680 likely benign not specified 2016-11-07 criteria provided, single submitter clinical testing p.Asn2507Asn in exon 51 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 27/47762 European chromosomes, including 8 hemizygotes, by the Exome Aggregation Consortium (ExAC,; dbSNP rs112516305).
Ambry Genetics RCV000619872 SCV000735464 likely benign Cardiovascular phenotype 2016-08-04 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Illumina Clinical Services Laboratory,Illumina RCV001165704 SCV001327934 uncertain significance Dilated cardiomyopathy 3B 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.

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