ClinVar Miner

Submissions for variant NM_002609.4(PDGFRB):c.2268C>T (p.Asp756=)

gnomAD frequency: 0.00004  dbSNP: rs56112987
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000998472 SCV001154565 likely benign not provided 2018-06-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002549092 SCV003247443 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 2022-03-28 criteria provided, single submitter clinical testing

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