ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.1187C>T (p.Ala396Val)

gnomAD frequency: 0.00014  dbSNP: rs369957704
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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 RCV000695689 SCV000824203 benign Nemaline myopathy 2 2024-01-18 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003133542 SCV003809601 uncertain significance not provided 2019-03-15 criteria provided, single submitter clinical testing
Natera, Inc. RCV000695689 SCV002077836 uncertain significance Nemaline myopathy 2 2019-11-11 no assertion criteria provided clinical testing

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