ClinVar Miner

Submissions for variant NM_016219.5(MAN1B1):c.624G>A (p.Trp208Ter)

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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 RCV003328077 SCV004032526 pathogenic Rafiq syndrome 2022-10-10 criteria provided, single submitter clinical testing

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