ClinVar Miner

Submissions for variant NM_000081.4(LYST):c.11173G>A (p.Gly3725Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000192052 SCV000207386 not provided Chédiak-Higashi syndrome no assertion provided literature only
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV000192052 SCV002515673 likely pathogenic Chédiak-Higashi syndrome no assertion criteria provided research

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