Submissions for variant NM_006206.6(PDGFRA):c.273G>A (p.Ser91=)

gnomAD frequency: 0.00004  dbSNP: rs112372833

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000226905	SCV000289189	likely benign	Gastrointestinal stromal tumor	2024-01-12	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001016456	SCV001177414	likely benign	Hereditary cancer-predisposing syndrome	2019-06-27	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.
Sema4, Sema4	RCV001016456	SCV002538569	likely benign	Hereditary cancer-predisposing syndrome	2021-01-10	criteria provided, single submitter	curation
PreventionGenetics, part of Exact Sciences	RCV003897557	SCV004715836	likely benign	PDGFRA-related disorder	2021-11-17	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).