Submissions for variant NM_052989.3(IFT122):c.1103G>A (p.Ser368Asn)

gnomAD frequency: 0.00133  dbSNP: rs150550701

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000174413	SCV000225709	benign	not specified	2014-12-12	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000878672	SCV000440814	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000878672	SCV001021611	benign	Cranioectodermal dysplasia 1	2024-01-27	criteria provided, single submitter	clinical testing
Ocular Genomics Institute, Massachusetts Eye and Ear	RCV001376273	SCV001573356	likely benign	Rod-cone dystrophy	2021-04-08	criteria provided, single submitter	research	The IFT122 c.1256G>A variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: BS1, BP4. Based on this evidence we have classified this variant as Likely Benign.
Genetic Services Laboratory, University of Chicago	RCV000174413	SCV002071002	benign	not specified	2017-08-08	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002277342	SCV002566820	likely benign	Connective tissue disorder	2019-06-01	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000878672	SCV002807514	likely benign	Cranioectodermal dysplasia 1	2021-08-23	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001573983	SCV004155506	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	IFT122: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV001573983	SCV005257715	likely benign	not provided		criteria provided, single submitter	not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573983	SCV001800638	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001573983	SCV001965888	likely benign	not provided		no assertion criteria provided	clinical testing