ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.3988G>A (p.Ala1330Thr) (rs200699325)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000176939 SCV000228718 benign not specified 2015-09-24 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000329010 SCV000395075 uncertain significance Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia 2016-06-14 criteria provided, single submitter clinical testing

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