ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.1225A>T (p.Thr409Ser) (rs34155804)

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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 RCV000080438 SCV000112340 benign not specified 2015-12-16 criteria provided, single submitter clinical testing
GeneDx RCV000080438 SCV000168165 benign not specified 2014-03-24 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.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000080438 SCV000268944 benign not specified 2015-01-13 criteria provided, single submitter clinical testing p.Thr409Ser in exon 11 of DMD: This variant is not expected to have clinical sig nificance because it has been identified in 3.7% (140/3833) of African American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/ EVS/; dbSNP rs34155804).
Invitae RCV001082086 SCV000288040 benign Duchenne muscular dystrophy 2019-12-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000080438 SCV000309920 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000392921 SCV000482278 benign Dilated cardiomyopathy 3B 2018-01-13 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000080438 SCV000603338 benign not specified 2019-04-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000621873 SCV000736384 benign Cardiovascular phenotype 2015-11-12 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
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000853048 SCV000995805 benign Hypertrophic cardiomyopathy 2019-06-03 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000755250 SCV001143741 benign not provided 2018-10-22 criteria provided, single submitter clinical testing

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