Submissions for variant NM_001127671.2(LIFR):c.2498-7G>A

gnomAD frequency: 0.00306  dbSNP: rs113078097

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000353300	SCV000457580	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.
Eurofins Ntd Llc (ga)	RCV000728402	SCV000855972	benign	not specified	2017-07-28	criteria provided, single submitter	clinical testing
Invitae	RCV000974200	SCV001122015	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000974200	SCV001794892	likely benign	not provided	2021-01-07	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV003103992	SCV002048257	benign	Stüve-Wiedemann syndrome 1	2022-04-28	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002278610	SCV002566897	likely benign	Connective tissue disorder	2020-10-30	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV000353300	SCV001462552	benign	Stuve-Wiedemann syndrome	2020-09-16	no assertion criteria provided	clinical testing