ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.1314C>T (p.Phe438=)

dbSNP: rs765769921
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 RCV001442795 SCV001645750 likely benign Nemaline myopathy 2 2023-09-23 criteria provided, single submitter clinical testing
Natera, Inc. RCV001442795 SCV002077829 likely benign Nemaline myopathy 2 2021-07-14 no assertion criteria provided clinical testing

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