ClinVar Miner

Submissions for variant NM_033109.5(PNPT1):c.412A>G (p.Ile138Val)

gnomAD frequency: 0.00111  dbSNP: rs76401964
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000907438 SCV001052144 likely benign not provided 2024-01-25 criteria provided, single submitter clinical testing
Baylor Genetics RCV001336836 SCV001530338 uncertain significance Combined oxidative phosphorylation defect type 13 2018-01-01 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV000907438 SCV001881968 likely benign not provided 2020-11-30 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge

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