ClinVar Miner

Submissions for variant NM_152393.4(KLHL40):c.1421+9G>A

gnomAD frequency: 0.00148  dbSNP: rs184819763
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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 RCV000876465 SCV001019040 benign Nemaline myopathy 8 2024-01-29 criteria provided, single submitter clinical testing

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