Submissions for variant NM_004415.4(DSP):c.5304G>C (p.Gly1768=) (rs530612211)

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Total submissions: 8

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine	RCV000156212	SCV000205928	likely benign	not specified	2014-01-02	criteria provided, single submitter	clinical testing	Gly1768Gly in exon 23 of DSP: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. Gly1768Gly in exon 23 of DSP (allele frequenc y = n/a)
Illumina Clinical Services Laboratory,Illumina	RCV000366942	SCV000465114	likely benign	Ectodermal dysplasia skin fragility syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000390842	SCV000465115	likely benign	Skin fragility woolly hair syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000299267	SCV000465116	likely benign	Arrhythmogenic right ventricular cardiomyopathy	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000354193	SCV000465117	likely benign	Epidermolysis bullosa, lethal acantholytic	2016-06-14	criteria provided, single submitter	clinical testing
Invitae	RCV000477526	SCV000555767	benign	Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8	2017-12-05	criteria provided, single submitter	clinical testing
GeneDx	RCV000156212	SCV000725092	likely benign	not specified	2018-01-18	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.
Color	RCV000771366	SCV000903661	benign	Cardiomyopathy	2018-08-21	criteria provided, single submitter	clinical testing

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