ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.1574+14G>T (rs200443042)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000037996 SCV000061662 likely benign not specified 2012-01-27 criteria provided, single submitter clinical testing 1574+14G>A in intron 12 of DSP: This variant is not expected to have clinical si gnificance because it is not located within the splice consensus sequence. This variant has also been identified in 3/7020 European American chromosomes by the NHLBI Exome Sequencing Project in a broad population (http://evs.gs.washington.e du/EVS). 1574+14G>A in intron 12 of DSP (allele frequency = 3/7020) **
GeneDx RCV000037996 SCV000512875 likely benign not specified 2015-12-17 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.

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