ClinVar Miner

Submissions for variant NM_006063.3(KLHL41):c.408A>G (p.Leu136=)

gnomAD frequency: 0.00004  dbSNP: rs916381609
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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 RCV001397189 SCV001598934 likely benign Nemaline myopathy 9 2021-02-18 criteria provided, single submitter clinical testing

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