ClinVar Miner

Submissions for variant NM_015425.6(POLR1A):c.473G>C (p.Arg158Pro)

gnomAD frequency: 0.00557  dbSNP: rs146078741
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000960008 SCV001106953 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Mendelics RCV000986786 SCV001135910 likely benign Acrofacial dysostosis Cincinnati type 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000960008 SCV004155142 benign not provided 2022-06-01 criteria provided, single submitter clinical testing POLR1A: BP4, BS1, BS2

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