ClinVar Miner

Submissions for variant NM_000222.2(KIT):c.252G>T (p.Thr84=) (rs56411694)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000857925 SCV000261565 benign not provided 2019-03-06 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000251240 SCV000303056 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000205017 SCV000449874 likely benign Gastrointestinal stroma tumor 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000408377 SCV000449875 likely benign Partial albinism 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000283816 SCV000449876 likely benign Mastocytosis 2016-06-14 criteria provided, single submitter clinical testing

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