ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.1497+14G>A

dbSNP: rs371853838
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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, Mass General Brigham Personalized Medicine RCV000039065 SCV000062743 likely benign not specified 2012-07-10 criteria provided, single submitter clinical testing 1497+14G>A in intron 08 of JUP: This variant is not expected to have clinical si gnificance because it is not located within the splice consensus sequence. It ha s been identified in 1/3738 African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS). 1497 +14G>A in intron 08 of JUP (allele frequency = 1/3738) **
Labcorp Genetics (formerly Invitae), Labcorp RCV005222725 SCV005869448 likely benign Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2024-10-23 criteria provided, single submitter clinical testing

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