ClinVar Miner

Submissions for variant NM_176869.3(PPA2):c.442-7del

dbSNP: rs753176486
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002127517 SCV002401925 benign not provided 2024-01-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004543830 SCV004794045 likely benign PPA2-related disorder 2019-07-13 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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