ClinVar Miner

Submissions for variant NM_002609.4(PDGFRB):c.365-4G>T

gnomAD frequency: 0.00583  dbSNP: rs139448702
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000540845 SCV000652979 benign Acroosteolysis-keloid-like lesions-premature aging syndrome; Basal ganglia calcification, idiopathic, 4; Infantile myofibromatosis; Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome 2024-01-18 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316727 SCV004016547 benign Myeloproliferative disorder, chronic, with eosinophilia 2023-07-07 criteria provided, single submitter clinical testing

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