ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.1997C>T (p.Ser666Leu) (rs34563188)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000080474 SCV000112376 benign not specified 2013-08-01 criteria provided, single submitter clinical testing
GeneDx RCV000080474 SCV000235830 benign not specified 2014-11-03 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 RCV000080474 SCV000268948 benign not specified 2015-01-13 criteria provided, single submitter clinical testing p.Ser666Leu in exon 17 of DMD: This variant is not expected to have clinical sig nificance because it has been identified in 1.6% (61/3833) of African American c hromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/E VS/; dbSNP rs34563188).
Invitae RCV001084848 SCV000288047 benign Duchenne muscular dystrophy 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000250691 SCV000319108 benign Cardiovascular phenotype 2015-04-20 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
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000080474 SCV000603366 benign not specified 2018-10-23 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000711450 SCV000841817 benign not provided 2018-08-09 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000853044 SCV000995801 benign Cardiomyopathy 2019-02-16 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001165928 SCV001328186 uncertain significance Dilated cardiomyopathy 3B 2017-04-27 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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