ClinVar Miner

Submissions for variant NM_006063.3(KLHL41):c.1578C>T (p.Thr526=)

gnomAD frequency: 0.00022  dbSNP: rs562170123
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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 RCV001511572 SCV001718845 benign Nemaline myopathy 9 2023-09-24 criteria provided, single submitter clinical testing

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