ClinVar Miner

Submissions for variant NM_144573.4(NEXN):c.1065T>C (p.Asp355=) (rs369897647)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000151560 SCV000199703 likely benign not specified 2013-05-01 criteria provided, single submitter clinical testing Asp355Asp in exon 10 of NEXN: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been 1/8106 European American chromosom es by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/). A sp355Asp in exon 10 of NEXN (allele frequency = 1/8106) **
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769822 SCV000901248 benign Cardiomyopathy 2018-08-21 criteria provided, single submitter clinical testing
Invitae RCV000866510 SCV001007617 benign not provided 2018-11-14 criteria provided, single submitter clinical testing

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