ClinVar Miner

Submissions for variant NM_152393.4(KLHL40):c.1467G>A (p.Glu489=)

gnomAD frequency: 0.00004  dbSNP: rs145033040
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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 RCV001399567 SCV001601357 likely benign Nemaline myopathy 8 2022-09-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003946048 SCV004762806 likely benign KLHL40-related disorder 2023-08-09 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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