ClinVar Miner

Submissions for variant NM_000400.4(ERCC2):c.1426G>A (p.Val476Ile)

gnomAD frequency: 0.00004  dbSNP: rs531021258
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000978494 SCV001126423 benign not provided 2024-01-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000978494 SCV001151954 uncertain significance not provided 2017-08-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001132705 SCV001292373 likely benign Xeroderma pigmentosum, group D 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Sema4, Sema4 RCV002258075 SCV002531556 likely benign Xeroderma pigmentosum 2020-09-11 criteria provided, single submitter curation

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