ClinVar Miner

Submissions for variant NM_002609.4(PDGFRB):c.1033C>T (p.Pro345Ser) (rs2229558)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000420025 SCV000511179 likely benign not provided 2016-10-27 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Invitae RCV001084340 SCV000652971 benign Premature aging syndrome, Penttinen type; Basal ganglia calcification, idiopathic, 4; Infantile myofibromatosis; Kosaki overgrowth syndrome 2020-12-01 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001199248 SCV001370298 benign Basal ganglia calcification, idiopathic, 4 2019-04-08 criteria provided, single submitter clinical testing This variant was classified as: Benign. The following ACMG criteria were applied in classifying this variant: BS1,BS2.
GeneDx RCV000420025 SCV001960682 benign not provided 2019-04-02 criteria provided, single submitter clinical testing

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