ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.836G>C (p.Arg279Pro)

dbSNP: rs4786350
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000313052 SCV000395438 benign Saldino-Mainzer syndrome 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.
Invitae RCV000313052 SCV000640306 benign Saldino-Mainzer syndrome 2024-01-31 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000313052 SCV000744031 benign Saldino-Mainzer syndrome 2016-01-12 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000313052 SCV000745494 benign Saldino-Mainzer syndrome 2015-09-21 criteria provided, single submitter clinical testing
GeneDx RCV001573082 SCV001892113 benign not provided 2021-04-06 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000117261 SCV000151435 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573082 SCV001798426 likely benign not provided no assertion criteria provided clinical testing

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