ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.5374A>G (p.Lys1792Glu)

gnomAD frequency: 0.00001  dbSNP: rs541641039
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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 RCV000557997 SCV000640812 likely benign Nemaline myopathy 2 2025-01-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV000622837 SCV000741637 uncertain significance Inborn genetic diseases 2016-08-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV000557997 SCV001453494 uncertain significance Nemaline myopathy 2 2020-09-16 no assertion criteria provided clinical testing

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