ClinVar Miner

Submissions for variant NM_000222.2(KIT):c.1119C>T (p.Tyr373=) (rs72549293)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000362730 SCV000449880 likely benign Partial albinism 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000204968 SCV000449881 likely benign Gastrointestinal stroma tumor 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000309223 SCV000449882 likely benign Mastocytosis 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000204968 SCV000262366 benign Gastrointestinal stroma tumor 2018-01-12 criteria provided, single submitter clinical testing
PreventionGenetics RCV000249029 SCV000303050 benign not specified criteria provided, single submitter clinical testing

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