ClinVar Miner

Submissions for variant NM_000081.3(LYST):c.10941-7C>A (rs72761794)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224460 SCV000280896 likely benign not provided 2016-03-18 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000364399 SCV000745213 benign Chédiak-Higashi syndrome 2016-11-02 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000364399 SCV000743798 likely benign Chédiak-Higashi syndrome 2014-10-09 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000364399 SCV000355693 uncertain significance Chédiak-Higashi syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000364399 SCV000623890 benign Chédiak-Higashi syndrome 2017-12-22 criteria provided, single submitter clinical testing

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