ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.7125G>A (p.Gly2375=) (rs141709096)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000338092 SCV000465194 uncertain significance Epidermolysis bullosa, lethal acantholytic 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000391496 SCV000465195 uncertain significance Ectodermal dysplasia skin fragility syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000298541 SCV000465196 uncertain significance Skin fragility woolly hair syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000360346 SCV000465197 uncertain significance Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000468695 SCV000555783 likely benign not provided 2019-03-02 criteria provided, single submitter clinical testing
GeneDx RCV000168655 SCV000729407 likely benign not specified 2017-01-31 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.
Ambry Genetics RCV000617624 SCV000739869 likely benign Cardiovascular phenotype 2013-10-15 criteria provided, single submitter clinical testing
Color RCV000777713 SCV000913656 likely benign Cardiomyopathy 2018-04-08 criteria provided, single submitter clinical testing

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