ClinVar Miner

Submissions for variant NM_152393.4(KLHL40):c.738C>A (p.Ala246=)

gnomAD frequency: 0.00001  dbSNP: rs1400527780
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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 RCV002086192 SCV002387852 likely benign Nemaline myopathy 8 2022-10-04 criteria provided, single submitter clinical testing

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