ClinVar Miner

Submissions for variant NM_152393.4(KLHL40):c.1404C>T (p.Gly468=)

gnomAD frequency: 0.00004  dbSNP: rs766839036
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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 RCV001496258 SCV001700954 likely benign Nemaline myopathy 8 2023-06-30 criteria provided, single submitter clinical testing

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