ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.1541T>A (p.Leu514His) (rs150903791)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000406485 SCV000342039 benign not specified 2016-09-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000275916 SCV000395423 uncertain significance Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000951327 SCV001097719 benign not provided 2019-02-27 criteria provided, single submitter clinical testing

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