ClinVar Miner

Submissions for variant NM_002609.4(PDGFRB):c.263C>T (p.Thr88Ile) (rs147303614)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000951783 SCV001098218 likely benign Premature aging syndrome, Penttinen type; Basal ganglia calcification, idiopathic, 4; Infantile myofibromatosis; Kosaki overgrowth syndrome 2019-12-31 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579595 SCV001807842 likely benign not provided no assertion criteria provided clinical testing

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