Submissions for variant NM_052989.3(IFT122):c.1908T>C (p.Ile636=)

gnomAD frequency: 0.00334  dbSNP: rs139722192

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000192350	SCV000247601	likely benign	not specified	2015-04-30	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000878458	SCV001021368	benign	Cranioectodermal dysplasia 1	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000878458	SCV001310639	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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx	RCV001731513	SCV001982909	likely benign	not provided	2021-04-18	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000878458	SCV002802148	benign	Cranioectodermal dysplasia 1	2021-07-27	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003967498	SCV004777079	likely benign	IFT122-related disorder	2020-03-19	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).