ClinVar Miner

Submissions for variant NM_000081.3(LYST):c.7506A>G (p.Gln2502=) (rs140434436)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000244233 SCV000595660 likely benign not specified 2017-03-10 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000342045 SCV000743801 likely benign Chédiak-Higashi syndrome 2017-07-26 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000342045 SCV000355727 uncertain significance Chédiak-Higashi syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000342045 SCV000750157 likely benign Chédiak-Higashi syndrome 2017-12-18 criteria provided, single submitter clinical testing
PreventionGenetics RCV000244233 SCV000301987 likely benign not specified criteria provided, single submitter clinical testing

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