ClinVar Miner

Submissions for variant NM_152393.4(KLHL40):c.1314-12C>T

gnomAD frequency: 0.00082  dbSNP: rs201343745
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001565655 SCV001789040 likely benign not provided 2020-07-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002072163 SCV002443980 benign Nemaline myopathy 8 2024-01-29 criteria provided, single submitter clinical testing

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