ClinVar Miner

Submissions for variant NM_033026.6(PCLO):c.686C>T (p.Pro229Leu)

gnomAD frequency: 0.00220  dbSNP: rs112144434
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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 RCV000968463 SCV001115919 likely benign not provided 2025-01-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000968463 SCV001155107 benign not provided 2022-07-01 criteria provided, single submitter clinical testing PCLO: BP4, BS1, BS2
PreventionGenetics, part of Exact Sciences RCV003936062 SCV004751011 likely benign PCLO-related disorder 2022-06-16 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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