ClinVar Miner

Submissions for variant NM_052989.3(IFT122):c.3129C>T (p.Arg1043=)

gnomAD frequency: 0.00206  dbSNP: rs76881473
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000193036 SCV000228390 likely benign not specified 2016-05-02 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000193036 SCV000247604 uncertain significance not specified 2015-01-13 criteria provided, single submitter clinical testing
Invitae RCV000878287 SCV001021166 benign Cranioectodermal dysplasia 1 2024-01-26 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000878287 SCV001306125 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.
GeneDx RCV001555254 SCV001776636 likely benign not provided 2020-09-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002277380 SCV002566835 likely benign Connective tissue disorder 2019-02-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001555254 SCV004155509 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing IFT122: BP4, BP7, BS2

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