ClinVar Miner

Submissions for variant NM_001927.4(DES):c.792C>T (p.Asp264=) (rs150370918)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000037253 SCV000060910 benign not specified 2013-04-17 criteria provided, single submitter clinical testing Asp264Asp in exon 4 of DES: This variant is not expected to have clinical signif icance because it does not change an amino acid and has been identified in 7/128 Mexican American chromosomes by the 1000 Genomes Project (dbSNP rs150370918).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000037253 SCV000230186 benign not specified 2015-05-05 criteria provided, single submitter clinical testing
Invitae RCV000204254 SCV000261383 benign Myofibrillar myopathy 1; Muscular dystrophy, limb-girdle, type 2R 2020-11-28 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000037253 SCV000308547 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000242387 SCV000317864 benign Cardiovascular phenotype 2017-02-17 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
Illumina Clinical Services Laboratory,Illumina RCV000345483 SCV000427710 likely benign Myofibrillar Myopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000381468 SCV000427711 likely benign Dilated cardiomyopathy 1I 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Illumina Clinical Services Laboratory,Illumina RCV000295994 SCV000427712 likely benign Myofibrillar myopathy 1 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Illumina Clinical Services Laboratory,Illumina RCV000350858 SCV000427713 benign Neurogenic scapuloperoneal syndrome, Kaeser type 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000037253 SCV001338173 benign not specified 2020-02-22 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000037253 SCV001475072 benign not specified 2019-09-25 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000037253 SCV000150956 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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