ClinVar Miner

Submissions for variant NM_001301365.1(LYST):c.11268-5del (rs36014994)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000454746 SCV000539570 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000625109 SCV000743796 benign Chédiak-Higashi syndrome 2014-10-09 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000625109 SCV000743797 benign Chédiak-Higashi syndrome 2014-10-09 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000625109 SCV000745212 likely benign Chédiak-Higashi syndrome 2015-06-11 criteria provided, single submitter clinical testing

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