ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.21604C>T (p.Arg7202Cys)

gnomAD frequency: 0.00003  dbSNP: rs200826420
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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 RCV001241754 SCV001414795 likely benign Nemaline myopathy 2 2024-01-29 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003132332 SCV003810248 uncertain significance not provided 2020-03-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV001241754 SCV002084061 uncertain significance Nemaline myopathy 2 2020-02-05 no assertion criteria provided clinical testing

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