ClinVar Miner

Submissions for variant NM_001003679.3(LEPR):c.1968G>C (p.Lys656Asn) (rs1805094)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000266874 SCV000358817 likely benign Monogenic Non-Syndromic Obesity 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000321944 SCV000358818 benign Leptin receptor deficiency 2018-03-06 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.
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000321944 SCV000743424 benign Leptin receptor deficiency 2017-07-28 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712216 SCV000842654 benign not provided 2018-02-12 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000730960 SCV000858729 benign not specified 2017-12-19 criteria provided, single submitter clinical testing
GeneDx RCV000712216 SCV001936445 benign not provided 2018-10-16 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 20814201, 22530350, 23315873, 23266707, 18413223, 14970363, 20185531, 12006639, 9175732)
OMIM RCV000009050 SCV000029267 benign LEPTIN RECEPTOR POLYMORPHISM 2001-07-01 no assertion criteria provided literature only
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000321944 SCV000734050 benign Leptin receptor deficiency no assertion criteria provided clinical testing

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