ClinVar Miner

Submissions for variant NM_002609.4(PDGFRB):c.3287C>T (p.Ala1096Val)

gnomAD frequency: 0.00259  dbSNP: rs114435947
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000878003 SCV001020840 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 2024-01-26 criteria provided, single submitter clinical testing
Mendelics RCV000987618 SCV001137006 likely benign Myofibromatosis, infantile, 1 2019-05-28 criteria provided, single submitter clinical testing
GeneDx RCV001573574 SCV001898757 benign not provided 2021-06-07 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 29084058, 26599395, 24796542)
Ambry Genetics RCV002540033 SCV003737477 likely benign Inborn genetic diseases 2021-08-12 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573574 SCV001799647 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001573574 SCV001808000 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001573574 SCV001920433 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001573574 SCV001976093 likely benign not provided no assertion criteria provided clinical testing

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