ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.22428C>T (p.Leu7476=)

gnomAD frequency: 0.00005  dbSNP: rs371431256
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000117745 SCV000151998 benign not specified 2013-12-04 criteria provided, single submitter clinical testing
Counsyl RCV000667119 SCV000791519 likely benign Nemaline myopathy 2 2017-05-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000667119 SCV001017698 likely benign Nemaline myopathy 2 2024-09-27 criteria provided, single submitter clinical testing

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