ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.12976C>T (p.Arg4326Cys)

gnomAD frequency: 0.00002  dbSNP: rs1270122330
Minimum review status: Collection method:
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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 RCV000558726 SCV000640543 uncertain significance Nemaline myopathy 2 2017-08-02 criteria provided, single submitter clinical testing
Natera, Inc. RCV000558726 SCV002077030 uncertain significance Nemaline myopathy 2 2019-11-11 no assertion criteria provided clinical testing

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