ClinVar Miner

Submissions for variant NM_144573.4(NEXN):c.1368A>C (p.Gly456=) (rs397517845)

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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 RCV000041159 SCV000064850 likely benign not specified 2017-06-02 criteria provided, single submitter clinical testing p.Gly456Gly in exon 11 of NEXN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 6/111284 European chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinsti tute.org/; dbSNP rs397517845).
Invitae RCV000456926 SCV000560169 likely benign not provided 2018-07-10 criteria provided, single submitter clinical testing
Invitae RCV001496600 SCV001701300 likely benign Dilated cardiomyopathy 1CC; Familial hypertrophic cardiomyopathy 20 2020-10-08 criteria provided, single submitter clinical testing

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