ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.4060A>G (p.Lys1354Glu)

gnomAD frequency: 0.00001  dbSNP: rs371454282
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000641480 SCV000763121 likely benign Nemaline myopathy 2 2024-01-23 criteria provided, single submitter clinical testing
GeneDx RCV001591431 SCV001823537 likely benign not provided 2018-09-11 criteria provided, single submitter clinical testing

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