ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.-11G>A (rs727504450)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000586426 SCV000697870 uncertain significance not provided 2017-05-02 criteria provided, single submitter clinical testing Variant summary: The DSG2 c.-11G>A variant causes a missense change involving the alteration of a non-conserved nucleotide located in the 5' UTR. One in silico tool predicts a benign outcome for this variant. The variant of interest is absent in the large, broad control population, ExAC in 1260 control chromosomes. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS).
Color Health, Inc RCV001188623 SCV001355707 uncertain significance Cardiomyopathy 2019-10-29 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000155421 SCV000205111 not provided not specified 2012-10-03 no assertion provided clinical testing

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