ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.2919C>T (p.Ala973=) (rs2235640)

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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 RCV000315262 SCV000395126 benign Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000117259 SCV000728820 benign not specified 2018-01-02 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000315262 SCV000745465 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 RCV000117259 SCV000151433 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.
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000315262 SCV000733493 benign Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia no assertion criteria provided clinical testing

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