ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.11900A>G (p.Asn3967Ser)

gnomAD frequency: 0.00014  dbSNP: rs376194864
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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 RCV001067763 SCV001232842 benign Nemaline myopathy 2 2023-11-30 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003142022 SCV003810156 uncertain significance not provided 2021-11-25 criteria provided, single submitter clinical testing
Natera, Inc. RCV001067763 SCV001459396 uncertain significance Nemaline myopathy 2 2020-09-16 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004738151 SCV005342153 uncertain significance NEB-related disorder 2024-07-22 no assertion criteria provided clinical testing The NEB c.11900A>G variant is predicted to result in the amino acid substitution p.Asn3967Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.051% of alleles in individuals of African descent in gnomAD. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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