ClinVar Miner

Submissions for variant NM_152393.4(KLHL40):c.1313+9G>A

gnomAD frequency: 0.00006  dbSNP: rs368074669
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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 RCV000651592 SCV000773446 likely benign Nemaline myopathy 8 2022-11-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003965396 SCV004779046 likely benign KLHL40-related disorder 2019-08-29 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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