ClinVar Miner

Submissions for variant NM_002609.4(PDGFRB):c.2326G>A (p.Asp776Asn)

gnomAD frequency: 0.00001  dbSNP: rs751904503
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001307214 SCV001496618 likely 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 2023-03-30 criteria provided, single submitter clinical testing

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