ClinVar Miner

Submissions for variant NM_002609.4(PDGFRB):c.2523G>A (p.Lys841=) (rs41287108)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000337800 SCV000339805 likely benign not specified 2016-03-08 criteria provided, single submitter clinical testing
Invitae RCV000650692 SCV000772539 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
GeneDx RCV001579776 SCV001884182 benign not provided 2021-05-28 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27535533)
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579776 SCV001808476 likely benign not provided no assertion criteria provided clinical testing

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