ClinVar Miner

Submissions for variant NM_000222.2(KIT):c.1195G>A (p.Val399Ile) (rs143707288)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000858020 SCV000283898 likely benign not provided 2019-03-02 criteria provided, single submitter clinical testing
Knight Diagnostic Laboratories,Oregon Health and Sciences University RCV000231519 SCV000493750 uncertain significance Gastrointestinal stroma tumor 2016-01-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV001010178 SCV001170335 uncertain significance Hereditary cancer-predisposing syndrome 2018-11-27 criteria provided, single submitter clinical testing Insufficient evidence
ITMI RCV000121322 SCV000085493 not provided not specified 2013-09-19 no assertion provided reference population

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