ClinVar Miner

Submissions for variant NM_006231.4(POLE):c.5811+46G>A

gnomAD frequency: 0.01021  dbSNP: rs5744992
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001552900 SCV001773674 likely benign not provided 2018-06-26 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002465885 SCV002760606 benign not specified 2025-03-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001552900 SCV005217311 likely benign not provided criteria provided, single submitter not provided

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