ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.4040+10C>T (rs138364426)

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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 RCV000176938 SCV000228717 benign not specified 2014-12-09 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000267875 SCV000395071 uncertain significance Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000859649 SCV000762795 benign not provided 2019-01-04 criteria provided, single submitter clinical testing

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