ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.2542C>T (p.Arg848Cys) (rs201384469)

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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 RCV000349501 SCV000336934 uncertain significance not provided 2015-11-06 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000389738 SCV000395142 likely benign Saldino-Mainzer 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Invitae RCV000389738 SCV001031625 likely benign Saldino-Mainzer syndrome 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000349501 SCV001767508 uncertain significance not provided 2019-08-08 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 31872526)
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center RCV001252699 SCV001163842 uncertain significance Microcephaly no assertion criteria provided research

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