ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.8472G>C (p.Gly2824=) (rs2744380)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038104 SCV000061770 benign not specified 2011-07-20 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000038104 SCV000228150 benign not specified 2015-01-08 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000038104 SCV000310369 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000241982 SCV000317615 benign Cardiovascular phenotype 2015-03-09 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000304085 SCV000465262 benign Ectodermal dysplasia skin fragility syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000363396 SCV000465263 benign Skin fragility woolly hair syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000273141 SCV000465264 benign Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000328251 SCV000465265 benign Epidermolysis bullosa, lethal acantholytic 2016-06-14 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV000577996 SCV000679901 benign Arrhythmogenic right ventricular cardiomyopathy, type 8 2017-08-01 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV000578053 SCV000679902 benign Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis 2017-08-01 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV000577940 SCV000679903 benign Dilated cardiomyopathy with woolly hair and keratoderma 2017-08-01 criteria provided, single submitter clinical testing
Color RCV000775978 SCV000910499 benign Cardiomyopathy 2018-04-08 criteria provided, single submitter clinical testing

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