Submissions for variant NM_052989.3(IFT122):c.3432C>T (p.Ile1144=)

gnomAD frequency: 0.00277  dbSNP: rs149884307

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000193866	SCV000247605	likely benign	not specified	2015-04-07	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000878346	SCV000440850	likely benign	Cranioectodermal dysplasia 1	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000878346	SCV001021235	benign	Cranioectodermal dysplasia 1	2025-01-02	criteria provided, single submitter	clinical testing
GeneDx	RCV001657980	SCV001874180	likely benign	not provided	2021-02-09	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000878346	SCV002806373	likely benign	Cranioectodermal dysplasia 1	2021-10-15	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001657980	SCV005257740	likely benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV003927778	SCV004744094	likely benign	IFT122-related disorder	2019-12-05	no assertion criteria provided	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).