Submissions for variant NM_014714.4(IFT140):c.1542C>A (p.Leu514=)

gnomAD frequency: 0.00297  dbSNP: rs141542834

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000357908	SCV000342038	benign	not specified	2016-09-08	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000368081	SCV000395422	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	RCV000368081	SCV000745493	likely benign	Saldino-Mainzer syndrome	2017-06-28	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000368081	SCV001097718	benign	Saldino-Mainzer syndrome	2019-12-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001706421	SCV003917443	likely benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	IFT140: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics	RCV001706421	SCV005216926	likely benign	not provided		criteria provided, single submitter	not provided
Clinical Genetics, Academic Medical Center	RCV000357908	SCV001920468	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001706421	SCV001927882	likely benign	not provided		no assertion criteria provided	clinical testing