ClinVar Miner

Submissions for variant NM_002609.4(PDGFRB):c.945C>T (p.Tyr315=)

gnomAD frequency: 0.00247  dbSNP: rs56069016
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000952399 SCV001098899 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 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001683699 SCV001901241 benign not provided 2021-01-20 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001683699 SCV004157357 benign not provided 2022-08-01 criteria provided, single submitter clinical testing PDGFRB: BS1, BS2

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