ClinVar Miner

Submissions for variant NM_033109.5(PNPT1):c.1099C>T (p.Leu367Phe)

gnomAD frequency: 0.00029  dbSNP: rs142840568
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001472931 SCV001804400 uncertain significance not provided 2025-04-25 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001472931 SCV001677073 likely benign not provided 2025-02-02 criteria provided, single submitter clinical testing

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