ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.61G>A (p.Glu21Lys)

gnomAD frequency: 0.00013  dbSNP: rs199907781
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000733851 SCV000617818 uncertain significance not provided 2022-11-29 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV000550343 SCV000640840 likely benign Nemaline myopathy 2 2024-12-04 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000733851 SCV000861952 uncertain significance not provided 2018-06-13 criteria provided, single submitter clinical testing
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000550343 SCV000993627 uncertain significance Nemaline myopathy 2 2019-03-15 criteria provided, single submitter research
Revvity Omics, Revvity RCV000733851 SCV003814120 uncertain significance not provided 2023-08-15 criteria provided, single submitter clinical testing
Natera, Inc. RCV000550343 SCV001458316 uncertain significance Nemaline myopathy 2 2020-01-17 no assertion criteria provided clinical testing

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