ClinVar Miner

Submissions for variant NM_000222.2(KIT):c.2446G>C (p.Asp816His) (rs121913506)

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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) RCV000418294 SCV000504200 likely pathogenic Hematologic neoplasm 2016-05-13 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000428990 SCV000504201 pathogenic Cutaneous melanoma 2014-10-02 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000439677 SCV000504202 likely pathogenic Gastrointestinal stroma tumor 2015-07-14 no assertion criteria provided literature only
Donald Williams Parsons Laboratory,Baylor College of Medicine RCV000505647 SCV000599928 other Dysgerminoma 2016-05-01 no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000379347 SCV000339763 pathogenic not provided 2016-02-15 criteria provided, single submitter clinical testing
OMIM RCV000014877 SCV000035132 pathogenic Malignant tumor of testis 1999-06-01 no assertion criteria provided literature only

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