ClinVar Miner

Submissions for variant NM_000123.4(ERCC5):c.3356C>T (p.Ala1119Val) (rs2227871)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000861420 SCV001001724 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001112637 SCV001270319 likely benign Xeroderma pigmentosum, group G 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV001112637 SCV002010638 uncertain significance Xeroderma pigmentosum, group G 2021-11-03 criteria provided, single submitter clinical testing
ITMI RCV000120842 SCV000085007 not provided not specified 2013-09-19 no assertion provided reference population
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000861420 SCV001926929 likely benign not provided no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000861420 SCV001962811 likely benign not provided no assertion criteria provided clinical testing

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