ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.1481A>T (p.Tyr494Phe) (rs28763961)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756041 SCV000883748 benign not provided 2017-07-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV000242202 SCV000317506 benign Cardiovascular phenotype 2015-08-03 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000037993 SCV000051534 benign not specified 2013-06-24 criteria provided, single submitter research
Color RCV000776055 SCV000910689 benign Cardiomyopathy 2018-03-07 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000037993 SCV000332665 benign not specified 2015-07-10 criteria provided, single submitter clinical testing
GeneDx RCV000037993 SCV000168256 benign not specified 2011-08-02 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.
Illumina Clinical Services Laboratory,Illumina RCV000331609 SCV000464890 likely benign Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000367547 SCV000464891 likely benign Epidermolysis bullosa, lethal acantholytic 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000277438 SCV000464892 likely benign Ectodermal dysplasia skin fragility syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000332582 SCV000464893 likely benign Skin fragility woolly hair syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000473405 SCV000555758 benign Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8 2017-08-15 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000037993 SCV000061659 benign not specified 2017-04-26 criteria provided, single submitter clinical testing p.Tyr494Phe in exon 12 of DSP: This variant is not expected to have clinical sig nificance because it has been identified in 7.7% (669/8648) of East Asian chromo somes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs28763961).

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