ClinVar Miner

Submissions for variant NM_006206.6(PDGFRA):c.336T>C (p.Leu112=)

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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 RCV003639273 SCV004550851 likely benign Gastrointestinal stromal tumor 2022-11-26 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003992793 SCV004811330 likely benign not provided 2024-03-01 criteria provided, single submitter clinical testing PDGFRA: PM2:Supporting, BP4, BP7
Ambry Genetics RCV004374319 SCV005024412 likely benign Hereditary cancer-predisposing syndrome 2023-12-14 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.

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