ClinVar Miner

Submissions for variant NM_006206.6(PDGFRA):c.1202C>A (p.Ala401Asp) (rs397514549)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000466976 SCV000546620 likely benign Gastrointestinal stromal tumor 2020-12-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV001010200 SCV001170358 likely benign Hereditary cancer-predisposing syndrome 2019-01-09 criteria provided, single submitter clinical testing In silico models in agreement (benign);Other strong data supporting benign classification
OMIM RCV000032817 SCV000056585 uncertain significance Cleft palate, isolated 2012-10-01 no assertion criteria provided literature only

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