ClinVar Miner

Submissions for variant NM_001127671.2(LIFR):c.2447A>G (p.Asp816Gly) (rs74856317)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000999901 SCV000884075 likely benign Stüve-Wiedemann syndrome 2020-06-22 criteria provided, single submitter clinical testing
Invitae RCV000756306 SCV001100874 benign not provided 2020-12-05 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000999901 SCV001317071 likely benign Stüve-Wiedemann 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.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000756306 SCV001501918 likely benign not provided 2020-07-01 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV000999901 SCV001762785 benign Stüve-Wiedemann syndrome 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV000756306 SCV001801029 likely benign not provided 2021-05-12 no assertion criteria provided clinical testing

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