ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.24509G>A (p.Gly8170Glu)

gnomAD frequency: 0.00001  dbSNP: rs398124169
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000081127 SCV000113035 uncertain significance not provided 2013-03-12 criteria provided, single submitter clinical testing
Counsyl RCV000667316 SCV000791747 uncertain significance Nemaline myopathy 2 2017-05-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000667316 SCV001383390 likely benign Nemaline myopathy 2 2023-07-30 criteria provided, single submitter clinical testing
Natera, Inc. RCV000667316 SCV002083961 uncertain significance Nemaline myopathy 2 2020-01-17 no assertion criteria provided clinical testing

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