ClinVar Miner

Submissions for variant NM_023073.3(CPLANE1):c.[2080A>G];[6968A>C]

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital RCV000416362 SCV000485091 likely pathogenic Orofaciodigital syndrome type 6; Joubert syndrome 17 2016-12-31 criteria provided, single submitter clinical testing

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