ClinVar Miner

Submissions for variant NM_182643.3(DLC1):c.167A>G (p.Glu56Gly)

gnomAD frequency: 0.00168  dbSNP: rs143324598
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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 RCV002139879 SCV002460583 likely benign not provided 2024-08-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002486958 SCV002800215 likely benign Colorectal cancer 2021-07-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003958882 SCV004773009 likely benign DLC1-related disorder 2024-02-07 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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