ClinVar Miner

Submissions for variant NM_004006.2(DMD):c.8767G>T (p.Ala2923Ser) (rs116283249)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000723438 SCV000112715 uncertain significance not provided 2018-06-01 criteria provided, single submitter clinical testing
GeneDx RCV000723438 SCV000532649 benign not provided 2020-08-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617868 SCV000736937 likely benign Cardiovascular phenotype 2017-10-19 criteria provided, single submitter clinical testing Does not segregate in family study ;In silico models in agreement (benign);Subpopulation frequency in support of benign classification
Invitae RCV001087138 SCV000751574 likely benign Duchenne muscular dystrophy 2020-11-26 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001167231 SCV001329701 uncertain significance Dilated cardiomyopathy 3B 2018-01-12 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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