ClinVar Miner

Submissions for variant NM_004006.2(DMD):c.7151C>A (p.Ser2384Tyr) (rs185706283)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000080749 SCV000112651 benign not specified 2016-01-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000329097 SCV000482231 likely benign 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 and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Invitae RCV001082093 SCV000560822 benign Duchenne muscular dystrophy 2020-12-03 criteria provided, single submitter clinical testing
GeneDx RCV000475227 SCV000723840 benign not provided 2020-03-13 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 29349559)
Ambry Genetics RCV000619037 SCV000736823 benign Cardiovascular phenotype 2017-04-28 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
CeGaT Praxis fuer Humangenetik Tuebingen RCV000475227 SCV001155954 likely benign not provided 2019-02-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000080749 SCV001159318 likely benign not specified 2019-04-18 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000475227 SCV001932290 likely benign not provided no assertion criteria provided clinical testing

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