ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.939C>T (p.Ser313=) (rs766580649)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000214984 SCV000271747 uncertain significance not specified 2015-12-03 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Ser313Ser var iant in DSP has not been previously reported in individuals with cardiomyopathy, but has been identified in 6/16506 South Asian chromosomes by the Exome Aggrega tion Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs766580649). This variant is located in the last base of the exon, which is part of the 5? splice region. Computational tools do not suggest an impact to splicing. However, this information is not predictive enough to rule out pathogenicity. In summary, whil e the clinical significance of the p.Ser313Ser variant is uncertain, these data suggest that it is more likely to be benign.
Illumina Clinical Services Laboratory,Illumina RCV000395114 SCV000464866 uncertain significance Skin fragility woolly hair syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000304703 SCV000464867 uncertain significance Epidermolysis bullosa, lethal acantholytic 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000361568 SCV000464868 uncertain significance Ectodermal dysplasia skin fragility syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000264555 SCV000464869 uncertain significance Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing

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