ClinVar Miner

Submissions for variant NM_152393.4(KLHL40):c.1245C>T (p.Tyr415=)

gnomAD frequency: 0.00002  dbSNP: rs781322851
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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 RCV001494244 SCV001698896 likely benign Nemaline myopathy 8 2022-07-31 criteria provided, single submitter clinical testing

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