ClinVar Miner

Submissions for variant NM_005236.2(ERCC4):c.2579C>A (p.Ala860Asp) (rs4986933)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000476568 SCV000559241 likely benign Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia, complementation group Q 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000989535 SCV001139955 likely benign Xeroderma pigmentosum, group F 2019-05-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000989535 SCV001274380 likely benign Xeroderma pigmentosum, group F 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.
ITMI RCV000120811 SCV000084976 not provided not specified 2013-09-19 no assertion provided reference population
University of Washington Center for Mendelian Genomics, University of Washington RCV001034545 SCV001197910 uncertain significance Hutchinson-Gilford syndrome no assertion criteria provided research

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