ClinVar Miner

Submissions for variant NM_006206.6(PDGFRA):c.2323+1120C>T

gnomAD frequency: 0.08547  dbSNP: rs2291591
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology RCV002284188 SCV002573654 likely pathogenic Myeloproliferative neoplasm, unclassifiable 2022-08-25 criteria provided, single submitter clinical testing
Mendelics RCV003492515 SCV004232566 likely benign Hereditary cancer 2024-03-27 criteria provided, single submitter clinical testing
ITMI RCV000119875 SCV000084005 not provided not specified 2013-09-19 no assertion provided reference population
PreventionGenetics, part of Exact Sciences RCV003975066 SCV004797831 benign PDGFRA-related disorder 2024-09-25 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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