ClinVar Miner

Submissions for variant NM_006206.6(PDGFRA):c.2230C>T (p.Pro744Ser)

gnomAD frequency: 0.00206  dbSNP: rs61735626
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000229967 SCV000289181 benign Gastrointestinal stromal tumor 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV001014828 SCV001175587 likely benign Hereditary cancer-predisposing syndrome 2018-11-28 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Sema4, Sema4 RCV001014828 SCV002538563 likely benign Hereditary cancer-predisposing syndrome 2020-12-17 criteria provided, single submitter curation
ITMI RCV000121784 SCV000085982 not provided not specified 2013-09-19 no assertion provided reference population
Genetic Services Laboratory, University of Chicago RCV000121784 SCV003839821 likely benign not specified 2022-10-02 no assertion criteria provided clinical testing

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