ClinVar Miner

Submissions for variant NM_004006.2(DMD):c.2273A>C (p.Asp758Ala) (rs750526692)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000555681 SCV000625863 benign Duchenne muscular dystrophy 2019-12-31 criteria provided, single submitter clinical testing
Klaassen Lab,Charite University Medicine Berlin RCV000853164 SCV000995878 uncertain significance Familial restrictive cardiomyopathy 2019-07-03 criteria provided, single submitter research
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001002415 SCV001160351 benign not specified 2019-02-25 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001168047 SCV001330605 likely benign 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 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.

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