ClinVar Miner

Submissions for variant NM_001360.2(DHCR7):c.189G>A (p.Gln63=) (rs1044482)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079647 SCV000111530 benign not specified 2018-06-06 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000079647 SCV000307642 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000271282 SCV000373928 benign Smith-Lemli-Opitz syndrome 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.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000271282 SCV000603309 benign Smith-Lemli-Opitz syndrome 2018-10-29 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000271282 SCV000677269 benign Smith-Lemli-Opitz syndrome 2017-05-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715342 SCV000846171 benign History of neurodevelopmental disorder 2016-03-11 criteria provided, single submitter clinical testing

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