ClinVar Miner

Submissions for variant NM_144573.3(NEXN):c.777A>G (p.Gln259=) (rs375544798)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041183 SCV000064874 likely benign not specified 2012-07-18 criteria provided, single submitter clinical testing Gln259Gln in exon 8 of NEXN: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence. It has been identified in 0.3% (11/3678) of Afr ican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS). Gln259Gln in exon 8 of NEXN (allele frequency = 0.3%, 11/3678) **
GeneDx RCV000041183 SCV000513924 benign not specified 2015-08-19 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.
Ambry Genetics RCV000620116 SCV000736108 likely benign Cardiovascular phenotype 2016-05-31 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV000647289 SCV000769078 benign not provided 2018-04-18 criteria provided, single submitter clinical testing

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