ClinVar Miner

Submissions for variant NM_025000.4(DCAF17):c.322-14C>T (rs192861143)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000341904 SCV000419266 benign Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Mendelics RCV000341904 SCV001136087 benign Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities 2019-05-28 criteria provided, single submitter clinical testing
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre RCV000171450 SCV000221649 likely pathogenic not provided no assertion criteria provided research
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000341904 SCV000734158 benign Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities no assertion criteria provided clinical testing

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