ClinVar Miner

Submissions for variant NM_000222.2(KIT):c.1621A>C (p.Met541Leu) (rs3822214)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Human Development Section,National Institutes of Health RCV000034504 SCV000043281 no known pathogenicity not provided 2012-07-13 no assertion criteria provided research Converted during submission to Benign.
Database of Curated Mutations (DoCM) RCV000422326 SCV000505727 not provided Chronic myelogenous leukemia 2016-03-10 no assertion provided literature only
ITMI RCV000121313 SCV000085484 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000370023 SCV000449886 likely benign Gastrointestinal stroma tumor 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000261290 SCV000449887 likely benign Mastocytosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000315844 SCV000449888 likely benign Partial albinism 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000121313 SCV000303052 benign not specified criteria provided, single submitter clinical testing

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