Submissions for variant NM_014714.4(IFT140):c.3711C>T (p.Phe1237=)

gnomAD frequency: 0.00344  dbSNP: rs146172074

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000394524	SCV000395082	likely benign	Saldino-Mainzer 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000394524	SCV000745461	likely benign	Saldino-Mainzer syndrome	2015-09-21	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000733940	SCV000862046	likely benign	not specified	2018-06-28	criteria provided, single submitter	clinical testing
Invitae	RCV000394524	SCV001020961	benign	Saldino-Mainzer syndrome	2024-01-31	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000733940	SCV002066587	likely benign	not specified	2019-03-14	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003389801	SCV004133714	likely benign	not provided	2023-05-01	criteria provided, single submitter	clinical testing	IFT140: BP4, BP7, BS2
Clinical Genetics, Academic Medical Center	RCV000733940	SCV001922629	benign	not specified		no assertion criteria provided	clinical testing