ClinVar Miner

Submissions for variant NM_001101362.3(KBTBD13):c.1341T>C (p.Ala447=)

gnomAD frequency: 0.00001  dbSNP: rs1298809117
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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 RCV000533969 SCV000638774 likely benign Nemaline myopathy 6 2022-09-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003905385 SCV004718180 likely benign KBTBD13-related disorder 2019-06-11 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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