ClinVar Miner

Submissions for variant NM_052963.3(TOP1MT):c.512A>G (p.Gln171Arg)

gnomAD frequency: 0.01032  dbSNP: rs79138102
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 RCV002215157 SCV002367391 benign not provided 2025-01-23 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002215157 SCV005273640 benign not provided criteria provided, single submitter not provided

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