ClinVar Miner

Submissions for variant NM_152393.4(KLHL40):c.135G>C (p.Pro45=)

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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 RCV003741910 SCV004422622 likely benign Nemaline myopathy 8 2023-12-27 criteria provided, single submitter clinical testing

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