ClinVar Miner

Submissions for variant NM_001127671.2(LIFR):c.1899A>G (p.Ile633Met) (rs2303743)

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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 RCV000174730 SCV000226091 benign not specified 2015-01-06 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000265907 SCV000457590 benign Stüve-Wiedemann syndrome 2018-01-13 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.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000443237 SCV000511794 benign not provided 2017-01-05 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000265907 SCV000604098 benign Stüve-Wiedemann syndrome 2019-08-02 criteria provided, single submitter clinical testing
Invitae RCV000443237 SCV001097007 benign not provided 2020-12-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV000265907 SCV001462555 benign Stüve-Wiedemann syndrome 2020-09-16 no assertion criteria provided clinical testing

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