ClinVar Miner

Submissions for variant NM_002609.4(PDGFRB):c.3252A>G (p.Pro1084=) (rs246388)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000241889 SCV000309117 benign not specified criteria provided, single submitter clinical testing
Invitae RCV001517683 SCV001726237 benign Premature aging syndrome, Penttinen type; Basal ganglia calcification, idiopathic, 4; Infantile myofibromatosis; Kosaki overgrowth syndrome 2020-11-23 criteria provided, single submitter clinical testing
GeneDx RCV001689837 SCV001910163 benign not provided 2019-01-10 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000241889 SCV001741438 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000241889 SCV001808060 benign not specified no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000241889 SCV001952466 benign not specified no assertion criteria provided clinical testing

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