ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.9124T>C (p.Cys3042Arg) (rs6710212)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare 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,PreventionGenetics 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.
Integrated Genetics/Laboratory Corporation of America 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 Inc RCV000586573 SCV001144733 benign not provided 2019-03-04 criteria provided, single submitter clinical testing

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