ClinVar Miner

Submissions for variant NM_004006.2(DMD):c.4233+2C>T (rs147474070)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000080605 SCV000112507 likely benign not specified 2015-05-28 criteria provided, single submitter clinical testing
GeneDx RCV000080605 SCV000235870 benign not specified 2015-09-11 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 RCV000243182 SCV000319745 benign Cardiovascular phenotype 2018-09-20 criteria provided, single submitter clinical testing In silico models in agreement (benign);General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Invitae RCV000467777 SCV000560844 benign Duchenne muscular dystrophy 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710122 SCV000613122 benign not provided 2016-12-12 criteria provided, single submitter clinical testing
Baylor Genetics RCV000467777 SCV000992859 likely benign Duchenne muscular dystrophy 2017-12-31 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000853040 SCV000995797 benign Cardiomyopathy 2018-11-28 criteria provided, single submitter clinical testing
Mendelics RCV000467777 SCV001141691 likely benign Duchenne muscular dystrophy 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000710122 SCV001155964 likely benign not provided 2018-04-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001167970 SCV001330523 uncertain significance Dilated cardiomyopathy 3B 2017-04-28 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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