ClinVar Miner

Submissions for variant NM_033026.6(PCLO):c.13528+8A>G

gnomAD frequency: 0.00001  dbSNP: rs560413459
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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 RCV002147097 SCV002411898 benign not provided 2023-12-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003970961 SCV004786106 likely benign PCLO-related disorder 2022-03-16 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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