ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.23770G>A (p.Gly7924Ser)

gnomAD frequency: 0.00009  dbSNP: rs369602540
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000546379 SCV000640728 likely benign Nemaline myopathy 2 2024-01-11 criteria provided, single submitter clinical testing
GeneDx RCV003313095 SCV004012409 uncertain significance not provided 2023-07-07 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
Natera, Inc. RCV000546379 SCV002083999 uncertain significance Nemaline myopathy 2 2019-11-11 no assertion criteria provided clinical testing

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