ClinVar Miner

Submissions for variant NM_052989.3(IFT122):c.965C>T (p.Ser322Phe) (rs267607192)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Medical Genetics, Oslo University Hospital RCV000004899 SCV001437567 likely pathogenic Cranioectodermal dysplasia 1 2010-03-02 criteria provided, single submitter clinical testing
OMIM RCV000004899 SCV000025075 pathogenic Cranioectodermal dysplasia 1 2010-06-11 no assertion criteria provided literature only
GeneReviews RCV000004899 SCV000087020 pathologic Cranioectodermal dysplasia 1 2013-09-12 no assertion criteria provided curation Converted during submission to Pathogenic.

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