ClinVar Miner

Submissions for variant NM_001384732.1(CPLANE1):c.5667_5668del (p.Ile1889_Asp1890insTer)

dbSNP: rs962476553
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000513749 SCV000609611 likely pathogenic not provided 2017-04-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002476026 SCV002802746 likely pathogenic Orofaciodigital syndrome type 6; Joubert syndrome 17 2022-05-19 criteria provided, single submitter clinical testing

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