ClinVar Miner

Submissions for variant NM_005032.7(PLS3):c.1101A>G (p.Leu367=)

gnomAD frequency: 0.00017  dbSNP: rs1859671
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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 RCV002215167 SCV002361284 benign not provided 2024-08-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003958594 SCV004781561 likely benign PLS3-related disorder 2023-11-21 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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