ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.23524C>T (p.Arg7842Cys)

gnomAD frequency: 0.00050  dbSNP: rs184516994
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000641354 SCV000762995 likely benign Nemaline myopathy 2 2024-01-29 criteria provided, single submitter clinical testing
Baylor Genetics RCV000641354 SCV001525407 uncertain significance Nemaline myopathy 2 2019-10-01 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV001766379 SCV001989031 uncertain significance not provided 2021-06-16 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 27535533)
Revvity Omics, Revvity RCV001766379 SCV003810192 uncertain significance not provided 2022-10-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004547805 SCV004776733 likely benign NEB-related disorder 2021-06-02 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV000641354 SCV001456462 uncertain significance Nemaline myopathy 2 2019-11-11 no assertion criteria provided clinical testing

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