ClinVar Miner

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

gnomAD frequency: 0.00245  dbSNP: rs74856317
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003762868 SCV000884075 likely benign Stüve-Wiedemann syndrome 1 2023-02-10 criteria provided, single submitter clinical testing
Invitae RCV000756306 SCV001100874 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000999901 SCV001317071 likely benign Stuve-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 Center for Human Genetics Tuebingen RCV000756306 SCV001501918 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing LIFR: BP4, BS2
Genome-Nilou Lab RCV000999901 SCV001762785 benign Stuve-Wiedemann syndrome 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV000756306 SCV001801029 likely benign not provided 2021-05-12 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002279514 SCV002566895 benign Connective tissue disorder 2022-02-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003975300 SCV004792850 likely benign LIFR-related disorder 2021-03-25 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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