ClinVar Miner

Submissions for variant NM_005236.2(ERCC4):c.2617A>G (p.Ile873Val) (rs2020957)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001086582 SCV000288842 benign Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia, complementation group Q 2019-12-31 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000120807 SCV000594577 benign not specified 2018-12-14 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514744 SCV000610354 likely benign not provided 2017-06-19 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001117766 SCV001275986 likely benign Xeroderma pigmentosum, group F 2017-04-28 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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
ITMI RCV000120807 SCV000084971 not provided not specified 2013-09-19 no assertion provided reference population

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