ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.19724G>A (p.Arg6575His)

gnomAD frequency: 0.00003  dbSNP: rs185999504
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001247714 SCV001421153 likely benign Nemaline myopathy 2 2024-10-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002504365 SCV002816988 uncertain significance Nemaline myopathy 2; Arthrogryposis multiplex congenita 6 2021-07-15 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003132352 SCV003811623 uncertain significance not provided 2022-08-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001247714 SCV002084117 uncertain significance Nemaline myopathy 2 2020-01-17 no assertion criteria provided clinical testing

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