ClinVar Miner

Submissions for variant NM_033109.5(PNPT1):c.789A>G (p.Val263=)

gnomAD frequency: 0.00007  dbSNP: rs76180666
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
Invitae RCV000910560 SCV001055431 benign not provided 2023-11-13 criteria provided, single submitter clinical testing
GeneDx RCV000910560 SCV001826434 likely benign not provided 2020-11-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004541941 SCV004763878 likely benign PNPT1-related disorder 2023-12-15 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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