ClinVar Miner

Submissions for variant NM_002608.4(PDGFB):c.635C>T (p.Thr212Met)

gnomAD frequency: 0.00422  dbSNP: rs114786489
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000625215 SCV000744154 benign Dermatofibrosarcoma protuberans 2017-06-28 criteria provided, single submitter clinical testing
Invitae RCV000960323 SCV001107288 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
GeneDx RCV000960323 SCV001810647 likely benign not provided 2020-10-20 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000625215 SCV000745605 likely benign Dermatofibrosarcoma protuberans 2016-09-23 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579660 SCV001808061 benign not specified no assertion criteria provided clinical testing

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