ClinVar Miner

Submissions for variant NM_033109.5(PNPT1):c.1231G>A (p.Val411Ile)

dbSNP: rs551750608
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001588589 SCV001824233 likely benign not provided 2021-04-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001588589 SCV002352226 benign not provided 2023-12-19 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001588589 SCV003809128 uncertain significance not provided 2019-03-18 criteria provided, single submitter clinical testing

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