ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.25073G>A (p.Arg8358His)

gnomAD frequency: 0.00004  dbSNP: rs796797375
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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 RCV000816295 SCV000956796 likely benign Nemaline myopathy 2 2025-01-10 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003130072 SCV003810263 uncertain significance not provided 2023-10-25 criteria provided, single submitter clinical testing
Natera, Inc. RCV000816295 SCV001459158 uncertain significance Nemaline myopathy 2 2020-09-16 no assertion criteria provided clinical testing

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