ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.2986-6T>A

gnomAD frequency: 0.00108  dbSNP: rs144748036
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000124823 SCV000168262 benign not specified 2014-03-22 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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000124823 SCV000270167 likely benign not specified 2015-10-01 criteria provided, single submitter clinical testing c.2986-6T>A in intron 21 of DSP: This variant is not expected to have clinical s ignificance because it has been identified in 0.4% (42/10192) of African chromos omes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs144748036).
Eurofins Ntd Llc (ga) RCV000124823 SCV000338588 likely benign not specified 2016-01-05 criteria provided, single submitter clinical testing
Invitae RCV000468490 SCV000555789 benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2024-01-24 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000777809 SCV000913804 likely benign Cardiomyopathy 2018-05-11 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000777809 SCV004240519 benign Cardiomyopathy 2023-01-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003945120 SCV004766420 likely benign DSP-related condition 2023-06-19 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Clinical Genetics, Academic Medical Center RCV000124823 SCV001918569 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001725984 SCV001968069 likely benign not provided no assertion criteria provided clinical testing

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