ClinVar Miner

Submissions for variant NM_152393.4(KLHL40):c.1443C>T (p.Cys481=)

gnomAD frequency: 0.00006  dbSNP: rs749572631
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ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002176069 SCV002477665 likely benign Nemaline myopathy 8 2023-09-25 criteria provided, single submitter clinical testing

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