ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.12601A>T (p.Met4201Leu)

dbSNP: rs1553876833
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 RCV000641397 SCV000763038 uncertain significance Nemaline myopathy 2 2017-12-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV000641397 SCV001461918 uncertain significance Nemaline myopathy 2 2020-01-08 no assertion criteria provided clinical testing

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