ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.10635G>A (p.Lys3545=)

gnomAD frequency: 0.00001  dbSNP: rs756424328
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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 RCV001444007 SCV001646999 likely benign Nemaline myopathy 2 2022-07-25 criteria provided, single submitter clinical testing

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