ClinVar Miner

Submissions for variant NM_002609.4(PDGFRB):c.581T>C (p.Ile194Thr) (rs2229560)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000878806 SCV001021774 likely benign Premature aging syndrome, Penttinen type; Basal ganglia calcification, idiopathic, 4; Infantile myofibromatosis; Kosaki overgrowth syndrome 2020-04-20 criteria provided, single submitter clinical testing
GeneDx RCV001573941 SCV001913467 benign not provided 2021-04-20 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 29868112)
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573941 SCV001800543 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001573941 SCV001807941 likely benign not provided no assertion criteria provided clinical testing

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