ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.6248A>G (p.Asp2083Gly)

gnomAD frequency: 0.00004  dbSNP: rs368626849
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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 RCV001964577 SCV002199115 likely benign Nemaline myopathy 2 2023-04-08 criteria provided, single submitter clinical testing
GeneDx RCV003329422 SCV004036500 uncertain significance not provided 2023-03-21 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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