ClinVar Miner

Submissions for variant NM_001384732.1(CPLANE1):c.7020dup (p.Leu2341fs)

dbSNP: rs2150932899
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV001806347 SCV002053871 pathogenic Joubert syndrome 17 criteria provided, single submitter clinical testing

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