ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.8968A>G (p.Arg2990Gly)

gnomAD frequency: 0.00002  dbSNP: rs765940770
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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 RCV000687168 SCV000814720 benign Nemaline myopathy 2 2024-01-27 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003140084 SCV003812221 uncertain significance not provided 2023-01-27 criteria provided, single submitter clinical testing
Natera, Inc. RCV000687168 SCV001456989 uncertain significance Nemaline myopathy 2 2019-11-11 no assertion criteria provided clinical testing

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