ClinVar Miner

Submissions for variant NM_000400.4(ERCC2):c.934G>A (p.Asp312Asn) (rs1799793)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000120789 SCV000304038 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000990231 SCV000413582 benign Xeroderma pigmentosum, group D 2018-03-06 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000120789 SCV000539113 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency, variant associated with cancer risk
Mendelics RCV000990231 SCV001141105 benign Xeroderma pigmentosum, group D 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV001514552 SCV001722421 benign not provided 2020-12-04 criteria provided, single submitter clinical testing
GeneDx RCV001514552 SCV001835874 benign not provided 2018-09-18 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27306318, 24841663, 25916209, 24101192, 24933002, 23973729, 29989875, 27153395, 24868140, 11606376, 19041121, 24728327, 21245954, 19242824, 21643959, 19669592, 19055600, 18641418, 22184993, 14630517, 20070155, 19706757)
Nilou-Genome Lab RCV001657759 SCV001876104 benign Cerebrooculofacioskeletal syndrome 2 2021-07-30 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001657760 SCV001876105 benign Trichothiodystrophy 1, photosensitive 2021-07-30 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV000990231 SCV001876106 benign Xeroderma pigmentosum, group D 2021-07-30 criteria provided, single submitter clinical testing
ITMI RCV000120789 SCV000084953 not provided not specified 2013-09-19 no assertion provided reference population
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000120789 SCV001741291 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000120789 SCV001974904 benign not specified no assertion criteria provided clinical testing

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