ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.22984C>T (p.His7662Tyr)

gnomAD frequency: 0.00002  dbSNP: rs373852098
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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 RCV000807279 SCV000947323 likely benign Nemaline myopathy 2 2023-06-23 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003132064 SCV003813568 uncertain significance not provided 2019-05-15 criteria provided, single submitter clinical testing
Natera, Inc. RCV000807279 SCV002084026 uncertain significance Nemaline myopathy 2 2020-07-24 no assertion criteria provided clinical testing

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