ClinVar Miner

Submissions for variant NM_005068.2(SIM1):c.1994G>A (p.Arg665His) (rs146866401)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000965350 SCV001112615 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001152786 SCV001314018 benign Obesity due to SIM1 deficiency 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.
CHU Sainte-Justine Research Center,University of Montreal RCV000240578 SCV000299178 likely benign Oromandibular-limb hypogenesis spectrum 2016-08-12 no assertion criteria provided research

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