ClinVar Miner

Submissions for variant NM_001330360.2(POLA1):c.2348C>T (p.Ser783Phe)

gnomAD frequency: 0.00016  dbSNP: rs367639262
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 RCV001880886 SCV002145970 benign not provided 2023-11-15 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001880886 SCV003809168 uncertain significance not provided 2020-04-08 criteria provided, single submitter clinical testing

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