ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.17628C>T (p.Leu5876=)

gnomAD frequency: 0.00006  dbSNP: rs377183242
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 RCV000874267 SCV001016415 likely benign Nemaline myopathy 2 2024-09-19 criteria provided, single submitter clinical testing
Natera, Inc. RCV000874267 SCV001454703 uncertain significance Nemaline myopathy 2 2020-03-11 no assertion criteria provided clinical testing

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