ClinVar Miner

Submissions for variant NM_001378743.1(CYLD):c.2723dup (p.Cys909fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV002466819 SCV002761527 likely pathogenic Brooke-Spiegler syndrome 2021-06-18 criteria provided, single submitter clinical testing

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