ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.66C>T (p.Tyr22=) (rs782575179)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000555536 SCV000645746 likely benign Naxos disease; Arrhythmogenic right ventricular cardiomyopathy, type 12 2017-06-27 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000605902 SCV000732002 likely benign not specified 2017-10-10 criteria provided, single submitter clinical testing p.Tyr22Tyr in exon 2 of JUP: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and it is not located wi thin the splice consensus sequence. It has been identified in 8/275726 chromoso mes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org ; dbSNP rs782575179). ACMG/AMP Criteria applied: BP4, BP7 (Richards 2015).

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