ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.13132A>G (p.Arg4378Gly)

gnomAD frequency: 0.00001  dbSNP: rs1189557869
Minimum review status: Collection method:
Minimum conflict level:
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 RCV000641441 SCV000763082 uncertain significance Nemaline myopathy 2 2017-11-13 criteria provided, single submitter clinical testing
Natera, Inc. RCV000641441 SCV001460863 uncertain significance Nemaline myopathy 2 2020-03-11 no assertion criteria provided clinical testing

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