ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.21706G>C (p.Ala7236Pro)

gnomAD frequency: 0.00001  dbSNP: rs777945797
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 RCV001299108 SCV001488187 likely benign Nemaline myopathy 2 2023-10-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV001299108 SCV002084058 uncertain significance Nemaline myopathy 2 2020-07-08 no assertion criteria provided clinical testing

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