ClinVar Miner

Submissions for variant NM_033109.5(PNPT1):c.1929T>C (p.Asp643=)

gnomAD frequency: 0.00019  dbSNP: rs149102879
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 RCV001698374 SCV000533043 likely benign not provided 2020-12-09 criteria provided, single submitter clinical testing
Invitae RCV001698374 SCV002362381 benign not provided 2023-12-30 criteria provided, single submitter clinical testing

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