ClinVar Miner

Submissions for variant NM_000123.3(ERCC5):c.3310G>C (p.Asp1104His) (rs17655)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000613326 SCV000745536 benign Xeroderma pigmentosum, group G 2015-09-21 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000613326 SCV000733199 benign Xeroderma pigmentosum, group G no assertion criteria provided clinical testing
Genetic Services Laboratory, University of Chicago RCV000116992 SCV000151113 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
ITMI RCV000116992 SCV000085012 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000326603 SCV000382127 benign Xeroderma pigmentosum 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000116992 SCV000302362 benign not specified criteria provided, single submitter clinical testing

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