ClinVar Miner

Submissions for variant NM_033109.5(PNPT1):c.223-9A>T

gnomAD frequency: 0.00054  dbSNP: rs202243908
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001521424 SCV000527592 likely benign not provided 2021-05-17 criteria provided, single submitter clinical testing
Invitae RCV001521424 SCV001730765 benign not provided 2024-01-21 criteria provided, single submitter clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002252124 SCV002523383 likely benign See cases 2019-12-15 criteria provided, single submitter clinical testing ACMG classification criteria: BS1, BP6
PreventionGenetics, part of Exact Sciences RCV004533053 SCV004729639 likely benign PNPT1-related disorder 2019-05-23 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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