ClinVar Miner

Submissions for variant NM_000123.4(ERCC5):c.3239G>A (p.Gly1080Glu) (rs4150388)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000962483 SCV001109568 likely benign not provided 2019-12-19 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001112635 SCV001270317 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 rule this variant out of causing disease. Therefore, this variant is classified as benign.
ITMI RCV000120839 SCV000085004 not provided not specified 2013-09-19 no assertion provided reference population

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