ClinVar Miner

Submissions for variant NM_001101362.3(KBTBD13):c.795C>T (p.Gly265=)

gnomAD frequency: 0.00038  dbSNP: rs577503698
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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 RCV002122978 SCV002401325 benign Nemaline myopathy 6 2025-01-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003951096 SCV004763055 likely benign KBTBD13-related disorder 2023-12-11 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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