ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.7209T>A (p.Val2403=)

gnomAD frequency: 0.00001  dbSNP: rs778083630
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000946297 SCV001092420 likely benign Nemaline myopathy 2 2024-03-04 criteria provided, single submitter clinical testing
GeneDx RCV001593141 SCV001823571 likely benign not provided 2021-03-15 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001593141 SCV003812193 uncertain significance not provided 2022-06-30 criteria provided, single submitter clinical testing
Natera, Inc. RCV000946297 SCV001461123 uncertain significance Nemaline myopathy 2 2020-03-10 no assertion criteria provided clinical testing

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