ClinVar Miner

Submissions for variant NM_000081.3(LYST):c.7793T>A (p.Phe2598Tyr) (rs34642241)

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Total submissions: 4
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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 RCV000224476 SCV000281270 benign not provided 2015-08-24 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000283108 SCV000355726 likely benign Chédiak-Higashi syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000283108 SCV000623915 benign Chédiak-Higashi syndrome 2018-01-02 criteria provided, single submitter clinical testing
PreventionGenetics RCV000249007 SCV000301988 benign not specified criteria provided, single submitter clinical testing

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