ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.4380C>T (p.Asp1460=) (rs61749517)

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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 RCV000395123 SCV000395065 likely benign Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000859635 SCV000640302 benign not provided 2019-03-05 criteria provided, single submitter clinical testing

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