ClinVar Miner

Submissions for variant NM_152393.4(KLHL40):c.1518T>C (p.Thr506=)

dbSNP: rs371545830
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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 RCV002209386 SCV002367255 likely benign Nemaline myopathy 8 2021-06-05 criteria provided, single submitter clinical testing

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