ClinVar Miner

Submissions for variant NM_002608.4(PDGFB):c.63+3048T>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003443357 SCV004168281 uncertain significance not provided 2023-04-21 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Canonical splice site variant in a gene or region of a gene for which loss of function is not a well-established mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge; Reported using an alternate transcript of the gene

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