ClinVar Miner

Submissions for variant NM_152393.4(KLHL40):c.1313+8T>C

gnomAD frequency: 0.00002  dbSNP: rs757710078
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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 RCV001427341 SCV001630016 likely benign Nemaline myopathy 8 2024-01-18 criteria provided, single submitter clinical testing

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