ClinVar Miner

Submissions for variant NM_006206.6(PDGFRA):c.3155C>T (p.Thr1052Met) (rs397514550)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000232988 SCV000289202 likely benign Gastrointestinal stromal tumor 2020-12-04 criteria provided, single submitter clinical testing
OMIM RCV000032819 SCV000056587 uncertain significance Cleft palate, isolated 2012-10-01 no assertion criteria provided literature only

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