ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.19326G>C (p.Arg6442=)

gnomAD frequency: 0.00019  dbSNP: rs779349365
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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 RCV001514180 SCV001721962 benign Nemaline myopathy 2 2024-10-15 criteria provided, single submitter clinical testing

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