ClinVar Miner

Submissions for variant NM_001291339.1(CSPP1):c.1209_1212del (p.Glu405fs) (rs587777145)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000087074 SCV000247124 pathogenic Joubert syndrome 21 2014-10-01 criteria provided, single submitter clinical testing
OMIM RCV000087074 SCV000119888 pathogenic Joubert syndrome 21 2014-01-02 no assertion criteria provided literature only
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre RCV000162164 SCV000196450 likely pathogenic Meckel-Gruber syndrome 2014-12-01 no assertion criteria provided research

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