ClinVar Miner

Submissions for variant NM_004643.4(PABPN1):c.-1G>T

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003142659 SCV003816575 uncertain significance Oculopharyngeal muscular dystrophy 2022-09-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003954054 SCV004771294 likely benign PABPN1-related disorder 2023-01-30 no assertion criteria provided 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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