ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.11982C>A (p.Ile3994=)

dbSNP: rs780157705
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000597102 SCV000705506 uncertain significance not provided 2017-01-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002062058 SCV002453247 likely benign Nemaline myopathy 2 2022-11-09 criteria provided, single submitter clinical testing

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