ClinVar Miner

Submissions for variant NM_007055.4(POLR3A):c.1289+203T>A

gnomAD frequency: 0.00417  dbSNP: rs147412540
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001843639 SCV002102712 likely benign not provided 2021-05-28 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001843639 SCV005221751 likely benign not provided criteria provided, single submitter not provided

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