ClinVar Miner

Submissions for variant NM_033109.5(PNPT1):c.739G>T (p.Val247Leu)

gnomAD frequency: 0.00007  dbSNP: rs574988767
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
GeneDx RCV001569088 SCV001793080 likely benign not provided 2021-04-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001569088 SCV002493863 benign not provided 2025-02-04 criteria provided, single submitter clinical testing

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