ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.4330T>C (p.Leu1444=)

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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 RCV002899922 SCV003245370 likely benign Nemaline myopathy 2 2021-12-10 criteria provided, single submitter clinical testing

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