ClinVar Miner

Submissions for variant NM_152393.4(KLHL40):c.1806T>C (p.Tyr602=)

gnomAD frequency: 0.00001  dbSNP: rs758044696
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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 RCV002202073 SCV002356651 likely benign Nemaline myopathy 8 2021-11-23 criteria provided, single submitter clinical testing

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