ClinVar Miner

Submissions for variant NM_002608.4(PDGFB):c.160+15C>A

gnomAD frequency: 0.03571  dbSNP: rs17303681
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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 RCV000625216 SCV000744155 benign Dermatofibrosarcoma protuberans 2015-09-21 criteria provided, single submitter clinical testing
GeneDx RCV001683618 SCV001896849 benign not provided 2019-04-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001683618 SCV002374059 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001683618 SCV005278763 benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000625216 SCV000745606 benign Dermatofibrosarcoma protuberans 2015-02-05 no assertion criteria provided clinical testing

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