ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.836G>C (p.Arg279Pro) (rs4786350)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000313052 SCV000395438 benign Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia 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 Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia 2019-12-31 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000313052 SCV000744031 benign Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia 2016-01-12 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000313052 SCV000745494 benign Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia 2015-09-21 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.

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