ClinVar Miner

Submissions for variant NM_000081.3(LYST):c.8980G>A (p.Glu2994Lys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000625111 SCV000745214 uncertain significance Chédiak-Higashi syndrome 2016-11-04 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000625111 SCV000743800 uncertain significance Chédiak-Higashi syndrome 2014-10-08 criteria provided, single submitter clinical testing

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