ClinVar Miner

Submissions for variant NM_001127671.2(LIFR):c.1937C>A (p.Thr646Asn) (rs79040751)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224818 SCV000281205 likely benign not provided 2015-06-12 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Weber Lab,Hannover Medical School RCV000491876 SCV000346033 likely pathogenic Congenital anomalies of kidney and urinary tract 2016-09-14 criteria provided, single submitter research
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000999980 SCV000604099 likely benign Stüve-Wiedemann syndrome 2020-08-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000505869 SCV000862038 benign not specified 2018-06-29 criteria provided, single submitter clinical testing
Invitae RCV000224818 SCV001103028 benign not provided 2020-12-04 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000999980 SCV001318857 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.
GeneDx RCV000224818 SCV001868939 benign not provided 2019-05-28 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28334964)

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