ClinVar Miner

Submissions for variant NM_002609.4(PDGFRB):c.3137+4A>G (rs246391)

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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 RCV000251507 SCV000309116 benign not specified criteria provided, single submitter clinical testing
Invitae RCV001517684 SCV001726238 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 RCV001610630 SCV001832834 benign not provided 2019-01-10 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000251507 SCV001741963 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000251507 SCV001808709 benign not specified no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000251507 SCV001958520 benign not specified no assertion criteria provided clinical testing

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