ClinVar Miner

Submissions for variant NM_015425.6(POLR1A):c.450C>T (p.Pro150=)

gnomAD frequency: 0.00116  dbSNP: rs187487275
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000905253 SCV001049827 likely benign not provided 2025-01-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000905253 SCV004155143 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing POLR1A: BP4, BP7

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