ClinVar Miner

Submissions for variant NM_006063.3(KLHL41):c.1709+20A>G

gnomAD frequency: 0.00001  dbSNP: rs762480893
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002042324 SCV002112774 likely benign Nemaline myopathy 9 2023-12-07 criteria provided, single submitter clinical testing

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