ClinVar Miner

Submissions for variant NM_144573.4(NEXN):c.1704C>T (p.Gly568=) (rs397517850)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041165 SCV000064856 likely benign not specified 2012-04-18 criteria provided, single submitter clinical testing Gly568Gly in exon 13 of NEXN: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and it is not located w ithin the splice consensus sequence. Gly568Gly in exon 13 of NEXN (allele frequ ency = n/a)
Invitae RCV000969907 SCV001117453 likely benign Dilated cardiomyopathy 1CC; Familial hypertrophic cardiomyopathy 20 2019-07-08 criteria provided, single submitter clinical testing

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