ClinVar Miner

Submissions for variant NM_000222.2(KIT):c.1676_1678TTG[1] (p.Val560del) (rs121913685)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Database of Curated Mutations (DoCM) RCV000428023 SCV000504181 pathogenic Thymoma 2014-10-02 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000432801 SCV000505539 likely pathogenic Cutaneous melanoma 2015-07-14 no assertion criteria provided literature only
OMIM RCV000014873 SCV000035128 pathogenic Gastrointestinal stromal tumor, familial 2003-05-27 no assertion criteria provided literature only

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