ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.9124T>C (p.Cys3042Arg)

gnomAD frequency: 0.97529  dbSNP: rs6710212
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000215771 SCV000269442 benign not specified 2014-12-10 criteria provided, single submitter clinical testing This is a RefSeq error. The reference base (c.9124T) is the minor allele. This a llele (T) has been identified in 7.8% (108/1384) of African American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs6710212) and thus meets criteria to be classified as benign.
PreventionGenetics, part of Exact Sciences RCV000215771 SCV000307403 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000215771 SCV000517096 benign not specified 2016-01-05 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000586573 SCV000697839 benign not provided 2017-02-27 criteria provided, single submitter clinical testing Variant summary: The NEB c.9124T>C (p.Cys3042Arg) variant involves the alteration of a non-conserved nucleotide. 3/4 in silico tools predict a benign outcome for this variant. This variant was found in 119893/120760 control chromosomes (59546 homozygotes) at a frequency of 0.9928205, which is approximately 281 times the estimated maximal expected allele frequency of a pathogenic NEB variant (0.0035355), suggesting this variant is the dominant allele. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign. Taken together, this variant is classified as benign.
Athena Diagnostics RCV000586573 SCV001144733 benign not provided 2019-03-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001276880 SCV001716706 benign Nemaline myopathy 2 2025-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001543082 SCV001761583 benign Arthrogryposis multiplex congenita 6 2021-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001276880 SCV001761584 benign Nemaline myopathy 2 2021-07-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000586573 SCV005238897 benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001276880 SCV001463521 benign Nemaline myopathy 2 2020-09-16 no assertion criteria provided clinical testing

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