ClinVar Miner

Submissions for variant NM_000123.3(ERCC5):c.760A>G (p.Met254Val) (rs1047769)

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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 RCV000625471 SCV000745522 benign Xeroderma pigmentosum, group G 2015-09-21 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000116993 SCV000151114 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.
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000625471 SCV000745984 benign Xeroderma pigmentosum, group G 2015-05-08 no assertion criteria provided clinical testing
ITMI RCV000116993 SCV000085021 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000280651 SCV000382092 likely benign Xeroderma pigmentosum 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000116993 SCV000302363 benign not specified criteria provided, single submitter clinical testing

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