ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.533A>G (p.Asp178Gly)

gnomAD frequency: 0.00001  dbSNP: rs779306921
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001863445 SCV002109339 likely benign Nemaline myopathy 2 2023-12-12 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003130558 SCV003811536 uncertain significance not provided 2021-06-30 criteria provided, single submitter clinical testing

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