ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.13706G>A (p.Arg4569His)

dbSNP: rs1216367965
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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 RCV000555371 SCV000640574 uncertain significance Nemaline myopathy 2 2017-12-14 criteria provided, single submitter clinical testing
GeneDx RCV001722478 SCV000717551 likely benign not provided 2020-10-21 criteria provided, single submitter clinical testing
Natera, Inc. RCV000555371 SCV001456736 uncertain significance Nemaline myopathy 2 2019-11-11 no assertion criteria provided clinical testing

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