Submissions for variant NM_004415.4(DSP):c.4752G>A (p.Ala1584=) (rs201213622)

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Total submissions: 7

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000244426	SCV000320555	likely benign	Cardiovascular phenotype	2015-12-01	criteria provided, single submitter	clinical testing	Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Color	RCV000777727	SCV000913675	likely benign	Cardiomyopathy	2018-10-22	criteria provided, single submitter	clinical testing
GeneDx	RCV000608702	SCV000722682	likely benign	not specified	2017-09-07	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.
Illumina Clinical Services Laboratory,Illumina	RCV000359779	SCV000465074	likely benign	Skin fragility woolly hair syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000265072	SCV000465075	likely benign	Epidermolysis bullosa, lethal acantholytic	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000310635	SCV000465076	likely benign	Ectodermal dysplasia skin fragility syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000365341	SCV000465077	likely benign	Arrhythmogenic right ventricular cardiomyopathy	2016-06-14	criteria provided, single submitter	clinical testing

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