ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.909+6C>T (rs193922705)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000039091 SCV000062769 likely benign not specified 2015-05-14 criteria provided, single submitter clinical testing c.909+6C>T in exon 5 of JUP: This variant is not expected to have clinical signi ficance because it has been identified in 0.3% (184/66606) of European chromosom es, including 2 homozygous occurrences, by the Exome Aggregation Consortium (ExA C, http://exac.broadinstitute.org; dbSNP rs193922705).
GeneDx RCV000039091 SCV000168908 benign not specified 2013-07-15 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000039091 SCV000231029 likely benign not specified 2015-01-14 criteria provided, single submitter clinical testing
Invitae RCV001083847 SCV000287319 likely benign Naxos disease; Arrhythmogenic right ventricular cardiomyopathy, type 12 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001094541 SCV000402742 uncertain significance Arrhythmogenic right ventricular cardiomyopathy, type 12 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Illumina Clinical Services Laboratory,Illumina RCV000300788 SCV000402743 uncertain significance Naxos disease 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000396251 SCV000995434 benign Arrhythmogenic right ventricular cardiomyopathy 2019-03-25 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000233778 SCV001151298 likely benign not provided 2020-01-01 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000030098 SCV000052753 benign Cardiac arrhythmia 2015-03-25 no assertion criteria provided clinical testing

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