ClinVar Miner

Submissions for variant NM_002609.4(PDGFRB):c.946G>A (p.Val316Met) (rs41287112)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000335817 SCV000339101 benign not specified 2017-06-01 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514246 SCV000610881 likely benign not provided 2017-06-02 criteria provided, single submitter clinical testing
Invitae RCV001079189 SCV001021720 benign Premature aging syndrome, Penttinen type; Basal ganglia calcification, idiopathic, 4; Infantile myofibromatosis; Kosaki overgrowth syndrome 2020-11-24 criteria provided, single submitter clinical testing
GeneDx RCV000514246 SCV001846882 benign not provided 2019-08-26 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30819905, 30761385, 27626691, 26494726)
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000514246 SCV001809043 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000514246 SCV001975833 likely benign not provided no assertion criteria provided clinical testing

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