ClinVar Miner

Submissions for variant NM_000123.4(ERCC5):c.1880C>A (p.Ala627Glu) (rs2227870)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000353936 SCV000382105 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.
Invitae RCV000860851 SCV001001016 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000860851 SCV001839628 likely benign not provided 2020-09-11 criteria provided, single submitter clinical testing
ITMI RCV000120865 SCV000085032 not provided not specified 2013-09-19 no assertion provided reference population

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