ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.1904-49T>A

gnomAD frequency: 0.41041  dbSNP: rs2076303
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000248376 SCV000310349 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000830275 SCV000972010 benign not provided 2018-06-15 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.
Genome-Nilou Lab RCV001660257 SCV001875722 benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 2021-07-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001660260 SCV001875724 benign Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis 2021-07-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001660259 SCV001875725 benign Lethal acantholytic epidermolysis bullosa 2021-07-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001660256 SCV001875726 benign Keratosis palmoplantaris striata 2 2021-07-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001660258 SCV001875727 benign Woolly hair-skin fragility syndrome 2021-07-30 criteria provided, single submitter clinical testing

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