ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.3510G>A (p.Glu1170=) (rs28763964)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038028 SCV000061694 benign not specified 2012-02-07 criteria provided, single submitter clinical testing
GeneDx RCV000038028 SCV000168263 benign not specified 2014-01-20 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.
Invitae RCV000226191 SCV000288533 benign Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8 2018-01-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000250046 SCV000318381 benign Cardiovascular phenotype 2015-10-01 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
Illumina Clinical Services Laboratory,Illumina RCV000361361 SCV000464994 likely benign Skin fragility woolly hair syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000259602 SCV000464995 likely benign Ectodermal dysplasia skin fragility syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000317241 SCV000464996 likely benign Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000374207 SCV000464997 likely benign Epidermolysis bullosa, lethal acantholytic 2016-06-14 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769227 SCV000900603 likely benign Cardiomyopathy 2015-11-04 criteria provided, single submitter clinical testing
Color RCV000769227 SCV000904528 benign Cardiomyopathy 2018-03-16 criteria provided, single submitter clinical testing

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