ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.12406G>A (p.Val4136Met)

dbSNP: rs1553877868
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 RCV000558486 SCV000640523 uncertain significance Nemaline myopathy 2 2017-07-17 criteria provided, single submitter clinical testing
Natera, Inc. RCV000558486 SCV002077044 uncertain significance Nemaline myopathy 2 2020-07-12 no assertion criteria provided clinical testing

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