ClinVar Miner

Submissions for variant NM_024596.5(MCPH1):c.1175A>G (p.Asp392Gly) (rs2515569)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000082198 SCV000114147 benign not specified 2014-12-20 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000082198 SCV000306933 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000603959 SCV000474607 benign Primary autosomal recessive microcephaly 1 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.
Athena Diagnostics Inc RCV000082198 SCV000614062 benign not specified 2017-08-02 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000603959 SCV000744347 benign Primary autosomal recessive microcephaly 1 2017-06-28 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000082198 SCV000193533 likely benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000603959 SCV000734614 benign Primary autosomal recessive microcephaly 1 no assertion criteria provided clinical testing

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