ClinVar Miner

Submissions for variant NM_015717.5(CD207):c.790T>C (p.Trp264Arg)

gnomAD frequency: 0.00189  dbSNP: rs200837270
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV000005665 SCV004810145 uncertain significance Birbeck granule deficiency 2024-04-04 criteria provided, single submitter clinical testing
OMIM RCV000005665 SCV000025847 pathogenic Birbeck granule deficiency 2006-06-02 no assertion criteria provided literature only
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001357629 SCV001553153 uncertain significance not provided no assertion criteria provided clinical testing

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