ClinVar Miner

Submissions for variant NM_000222.2(KIT):c.1924A>G (p.Lys642Glu) (rs121913512)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Database of Curated Mutations (DoCM) RCV000419318 SCV000504988 likely pathogenic Cutaneous melanoma 2014-10-02 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000429594 SCV000504989 likely pathogenic Adenocarcinoma of stomach 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000436303 SCV000504990 likely pathogenic Hematologic neoplasm 2016-05-13 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000418637 SCV000504991 likely pathogenic Gastrointestinal stroma tumor 2015-07-14 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000428892 SCV000504992 likely pathogenic Malignant melanoma of skin 2016-05-31 no assertion criteria provided literature only
OMIM RCV000014880 SCV000035135 pathogenic Gastrointestinal stromal tumor, familial 2000-11-01 no assertion criteria provided literature only

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