ClinVar Miner

Submissions for variant NM_007055.4(POLR3A):c.438C>T (p.Ile146=)

gnomAD frequency: 0.00208  dbSNP: rs16935547
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
Invitae RCV000947265 SCV001093437 benign not provided 2024-01-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000947265 SCV004125833 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing POLR3A: BP4, BP7

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