ClinVar Miner

Submissions for variant NM_002609.4(PDGFRB):c.85A>T (p.Ile29Phe) (rs17110944)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000246485 SCV000309118 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000551181 SCV000652980 benign Premature aging syndrome, Penttinen type; Basal ganglia calcification, idiopathic, 4; Infantile myofibromatosis; Kosaki overgrowth syndrome 2020-11-26 criteria provided, single submitter clinical testing
GeneDx RCV001573749 SCV001912355 benign not provided 2019-03-20 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573749 SCV001800065 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001573749 SCV001809440 likely benign not provided no assertion criteria provided clinical testing

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