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

gnomAD frequency: 0.00245  dbSNP: rs74856317

Total submissions: 8

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).