ClinVar Miner

Submissions for variant NM_000222.2(KIT):c.2847C>T (p.Pro949=) (rs56288823)

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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 RCV000264381 SCV000449907 likely benign Gastrointestinal stroma tumor 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000324212 SCV000449908 likely benign Partial albinism 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000378733 SCV000449909 likely benign Mastocytosis 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000264381 SCV000560741 benign Gastrointestinal stroma tumor 2018-01-16 criteria provided, single submitter clinical testing

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