ClinVar Miner

Submissions for variant NM_144573.4(NEXN):c.237T>C (p.Ala79=) (rs727504549)

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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 RCV000155711 SCV000205421 likely benign not specified 2013-04-10 criteria provided, single submitter clinical testing Ala79Ala in exon 4 of NEXN: This variant is not expected to have clinical signif icance because it does not alter an amino acid residue and is not located within the splice consensus sequence. Ala79Ala in exon 4 of NEXN (allele frequency = n/a)
Invitae RCV000196490 SCV000253656 likely benign not provided 2015-03-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV000248876 SCV000320244 likely benign Cardiovascular phenotype 2015-09-08 criteria provided, single submitter clinical testing Rarity in general population databases (dbsnp, esp, 1000 genomes);Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV001436210 SCV001639045 likely benign Dilated cardiomyopathy 1CC; Familial hypertrophic cardiomyopathy 20 2020-03-18 criteria provided, single submitter clinical testing

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