ClinVar Miner

Submissions for variant NM_007055.4(POLR3A):c.2247+27C>T

gnomAD frequency: 0.01170  dbSNP: rs143228905
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001732543 SCV001982751 likely benign not provided 2021-04-09 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001732543 SCV004125825 benign not provided 2022-10-01 criteria provided, single submitter clinical testing POLR3A: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV001732543 SCV005221743 likely benign not provided criteria provided, single submitter not provided

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