ClinVar Miner

Submissions for variant NM_000081.3(LYST):c.6630A>G (p.Glu2210=) (rs34466404)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000831393 SCV000973140 benign not provided 2018-06-13 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,Illumina RCV000266228 SCV000355740 likely benign Chédiak-Higashi syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000266228 SCV000623909 benign Chédiak-Higashi syndrome 2017-07-25 criteria provided, single submitter clinical testing
PreventionGenetics RCV000250303 SCV000301980 benign not specified criteria provided, single submitter clinical testing

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