ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.4218A>G (p.Lys1406=)

gnomAD frequency: 0.00001  dbSNP: rs754513702
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 RCV000878056 SCV001020898 likely benign Nemaline myopathy 2 2024-01-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV000878056 SCV002077715 likely benign Nemaline myopathy 2 2021-09-16 no assertion criteria provided clinical testing

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