ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.1542C>A (p.Leu514=) (rs141542834)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000357908 SCV000342038 benign not specified 2016-09-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000368081 SCV000395422 uncertain significance Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia 2016-06-14 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000368081 SCV000745493 likely benign Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia 2017-06-28 criteria provided, single submitter clinical testing
Invitae RCV000951326 SCV001097718 benign not provided 2019-02-27 criteria provided, single submitter clinical testing

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