ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.4243C>T (p.Leu1415=)

gnomAD frequency: 0.00001  dbSNP: rs749514411
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 RCV001421209 SCV001623731 likely benign Nemaline myopathy 2 2023-11-06 criteria provided, single submitter clinical testing
Natera, Inc. RCV001421209 SCV002077714 likely benign Nemaline myopathy 2 2021-09-10 no assertion criteria provided clinical testing

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