ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.23378T>C (p.Met7793Thr)

gnomAD frequency: 0.00007  dbSNP: rs536677256
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Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000641384 SCV000763025 benign Nemaline myopathy 2 2024-01-29 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003133433 SCV003811656 uncertain significance not provided 2019-10-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV000641384 SCV002084014 uncertain significance Nemaline myopathy 2 2019-11-11 no assertion criteria provided clinical testing

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