ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.9504C>T (p.Thr3168=)

gnomAD frequency: 0.00001  dbSNP: rs770587751
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 RCV000951407 SCV001097804 likely benign Nemaline myopathy 2 2024-01-27 criteria provided, single submitter clinical testing
Natera, Inc. RCV000951407 SCV002077163 likely benign Nemaline myopathy 2 2020-12-15 no assertion criteria provided clinical testing

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