ClinVar Miner

Submissions for variant NM_006206.6(PDGFRA):c.2643T>C (p.Tyr881=)

gnomAD frequency: 0.00002  dbSNP: rs766505486
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000549851 SCV000630618 likely benign Gastrointestinal stromal tumor 2024-12-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002431561 SCV002743707 likely benign Hereditary cancer-predisposing syndrome 2020-01-17 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen RCV005256629 SCV005910239 likely benign not provided 2025-04-01 criteria provided, single submitter clinical testing PDGFRA: BP4, BP7

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