ClinVar Miner

Submissions for variant NM_004006.2(DMD):c.1554T>A (p.Asp518Glu) (rs61733587)

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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 RCV000080459 SCV000112361 benign not specified 2013-10-04 criteria provided, single submitter clinical testing
GeneDx RCV000080459 SCV000168166 benign not specified 2014-04-17 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.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224791 SCV000281446 benign not provided 2016-01-11 criteria provided, single submitter clinical testing
Invitae RCV001084239 SCV000288043 benign Duchenne muscular dystrophy 2019-12-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000080459 SCV000309922 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000245475 SCV000319874 benign Cardiovascular phenotype 2015-07-15 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
Athena Diagnostics Inc RCV000224791 SCV001143742 benign not provided 2019-01-18 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000080459 SCV001157227 benign not specified 2018-08-05 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001167507 SCV001330014 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.

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