ClinVar Miner

Submissions for variant NM_006206.6(PDGFRA):c.2508C>T (p.Asp836=)

dbSNP: rs1577742311
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001015763 SCV001176633 likely benign Hereditary cancer-predisposing syndrome 2019-11-20 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002549427 SCV002939519 likely benign Gastrointestinal stromal tumor 2022-06-26 criteria provided, single submitter clinical testing

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