ClinVar Miner

Submissions for variant NM_006231.4(POLE):c.1359+19G>A

gnomAD frequency: 0.00034  dbSNP: rs375000942
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000429990 SCV000522212 likely benign not specified 2017-10-23 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV003657760 SCV002401287 benign not provided 2025-02-02 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000429990 SCV002550184 likely benign not specified 2025-03-04 criteria provided, single submitter clinical testing

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