ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.21270G>T (p.Pro7090=)

gnomAD frequency: 0.00016  dbSNP: rs368887173
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000878373 SCV001021270 likely benign Nemaline myopathy 2 2025-01-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507544 SCV002803094 likely benign Nemaline myopathy 2; Arthrogryposis multiplex congenita 6 2021-07-26 criteria provided, single submitter clinical testing
Natera, Inc. RCV000878373 SCV001460602 uncertain significance Nemaline myopathy 2 2020-01-24 no assertion criteria provided clinical testing

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