ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.11683A>G (p.Arg3895Gly)

gnomAD frequency: 0.00003  dbSNP: rs1015014078
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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 RCV000539045 SCV000640507 likely benign Nemaline myopathy 2 2025-02-03 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003133319 SCV003811665 uncertain significance not provided 2019-06-17 criteria provided, single submitter clinical testing
Natera, Inc. RCV000539045 SCV001461929 uncertain significance Nemaline myopathy 2 2019-11-11 no assertion criteria provided clinical testing

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