ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.3943_3948GCCAAG[2] (p.1315_1316AK[2]) (rs746697405)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000386105 SCV000395076 uncertain significance Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre RCV000256471 SCV000322798 likely pathogenic Orofacial-digital syndrome III; Short-rib thoracic dysplasia 1 with or without polydactyly no assertion criteria provided research

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