ClinVar Miner

Submissions for variant NM_001127671.2(LIFR):c.2766T>C (p.Asp922=)

gnomAD frequency: 0.00501  dbSNP: rs61027880
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000282725 SCV000457576 benign Stuve-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.
Invitae RCV000904351 SCV001048865 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000282725 SCV001477909 benign Stuve-Wiedemann syndrome 2021-09-03 criteria provided, single submitter clinical testing
GeneDx RCV000904351 SCV001789069 likely benign not provided 2021-05-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV000282725 SCV001452985 benign Stuve-Wiedemann syndrome 2019-10-28 no assertion criteria provided clinical testing

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