ClinVar Miner

Submissions for variant NM_017644.3(KLHL24):c.846T>C (p.Tyr282=)

gnomAD frequency: 0.00121  dbSNP: rs201498239
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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 RCV002150679 SCV002453415 benign not provided 2023-11-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002150679 SCV004149475 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing KLHL24: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV004758876 SCV005350644 likely benign KLHL24-related disorder 2024-04-30 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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