ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.20467-4dup

dbSNP: rs10687343
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
Illumina Laboratory Services, Illumina RCV000261857 SCV000416863 uncertain significance Nemaline Myopathy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002521302 SCV003478534 benign Nemaline myopathy 2 2018-08-31 criteria provided, single submitter clinical testing

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