ClinVar Miner

Submissions for variant NM_000081.3(LYST):c.9C>T (p.Thr3=) (rs33998267)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000395413 SCV000355811 uncertain significance Chédiak-Higashi syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000395413 SCV000623919 benign Chédiak-Higashi syndrome 2017-08-07 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000249486 SCV000539576 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: MAF
PreventionGenetics RCV000249486 SCV000301991 benign not specified criteria provided, single submitter clinical testing

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