ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.297G>A (p.Ser99=) (rs200976464)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000621188 SCV000735565 likely benign Cardiovascular phenotype 2016-10-25 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV000476168 SCV000560965 benign Naxos disease; Arrhythmogenic right ventricular cardiomyopathy, type 12 2017-11-26 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000039079 SCV000062757 likely benign not specified 2015-12-04 criteria provided, single submitter clinical testing p.Ser99Ser in exon 3 of JUP: 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 1 individual with ARV C (Cox 2011) who had a second possibly pathogenic variant. It has also been iden tified in 0.1% (9/6588) of Latino chromosomes by the Exome Aggregation Consortiu m (ExAC,

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