ClinVar Miner

Submissions for variant NM_002609.4(PDGFRB):c.1854G>A (p.Thr618=) (rs56072663)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000536633 SCV000652976 benign Premature aging syndrome, Penttinen type; Basal ganglia calcification, idiopathic, 4; Infantile myofibromatosis; Kosaki overgrowth syndrome 2020-11-16 criteria provided, single submitter clinical testing
GeneDx RCV001637078 SCV001849754 benign not provided 2018-11-06 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579846 SCV001808694 benign not specified no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV001579846 SCV001959146 benign not specified no assertion criteria provided clinical testing

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