ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.6381T>A (p.Asp2127Glu)

gnomAD frequency: 0.00020  dbSNP: rs368302286
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000244194 SCV000307380 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000244194 SCV000524458 likely benign not specified 2017-08-10 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000528321 SCV000640844 likely benign Nemaline myopathy 2 2025-01-20 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000528321 SCV001294961 uncertain significance Nemaline myopathy 2 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Athena Diagnostics RCV001658202 SCV001879743 uncertain significance not provided 2020-12-31 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001658202 SCV003812222 uncertain significance not provided 2023-02-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001658202 SCV004183775 uncertain significance not provided 2023-11-01 criteria provided, single submitter clinical testing NEB: PM2, BP1, BP4
Natera, Inc. RCV000528321 SCV001461130 uncertain significance Nemaline myopathy 2 2019-12-31 no assertion criteria provided clinical testing

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