ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.3964G>T (p.Ala1322Ser)

gnomAD frequency: 0.00018  dbSNP: rs376611641
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000695690 SCV000824204 benign Nemaline myopathy 2 2024-01-18 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003133543 SCV003813556 uncertain significance not provided 2023-06-27 criteria provided, single submitter clinical testing
Natera, Inc. RCV000695690 SCV002077726 uncertain significance Nemaline myopathy 2 2019-11-11 no assertion criteria provided clinical testing

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