ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.105G>A (p.Gly35=) (rs77445784)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000037983 SCV000061649 benign not specified 2017-09-04 criteria provided, single submitter clinical testing p.Gly35Gly in exon 1 of DSP: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence. It has been identified in 1.6% (293/18358) of E uropean chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broad institute.org; dbSNP rs77445784).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000037983 SCV000202635 benign not specified 2014-02-06 criteria provided, single submitter clinical testing
Invitae RCV000227163 SCV000288522 benign Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8 2018-01-23 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000330639 SCV000464830 likely benign Skin fragility woolly hair syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000387490 SCV000464831 likely benign Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000271030 SCV000464832 likely benign Epidermolysis bullosa, lethal acantholytic 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000328428 SCV000464833 likely benign Ectodermal dysplasia skin fragility syndrome 2016-06-14 criteria provided, single submitter clinical testing
Color RCV000029675 SCV000902763 benign Cardiomyopathy 2018-03-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000029675 SCV000052327 benign Cardiomyopathy 2015-05-13 no assertion criteria provided clinical testing

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