ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.448G>A (p.Val150Ile)

gnomAD frequency: 0.00003  dbSNP: rs376288418
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000706510 SCV000835565 likely benign Nemaline myopathy 2 2024-01-25 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003141707 SCV003814092 uncertain significance not provided 2023-08-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV000706510 SCV002077857 uncertain significance Nemaline myopathy 2 2019-11-11 no assertion criteria provided clinical testing

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