Submissions for variant NM_014714.4(IFT140):c.2742C>T (p.Ser914=)

gnomAD frequency: 0.00016  dbSNP: rs374793763

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000952020	SCV001098485	benign	Saldino-Mainzer syndrome	2024-12-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000952020	SCV001275393	benign	Saldino-Mainzer 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Fulgent Genetics, Fulgent Genetics	RCV002505416	SCV002805692	likely benign	Saldino-Mainzer syndrome; Retinitis pigmentosa 80	2021-10-21	criteria provided, single submitter	clinical testing
Dept Of Ophthalmology, Nagoya University	RCV003890106	SCV004704982	benign	Retinal dystrophy	2023-10-01	criteria provided, single submitter	research