ClinVar Miner

Submissions for variant NM_000123.4(ERCC5):c.3310G>C (p.Asp1104His)

gnomAD frequency: 0.30419  dbSNP: rs17655
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000116992 SCV000302362 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000613326 SCV000382127 benign Xeroderma pigmentosum, group G 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.
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000613326 SCV000745536 benign Xeroderma pigmentosum, group G 2015-09-21 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001657728 SCV001876132 benign Cerebrooculofacioskeletal syndrome 3 2021-07-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000613326 SCV001876134 benign Xeroderma pigmentosum, group G 2021-07-30 criteria provided, single submitter clinical testing
GeneDx RCV001719862 SCV001949486 benign not provided 2018-11-10 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 16738949, 21390047, 24728327, 22815677, 14729591, 27153395, 24802942)
Labcorp Genetics (formerly Invitae), Labcorp RCV001719862 SCV002444926 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001719862 SCV005233367 benign not provided criteria provided, single submitter not provided
ITMI RCV000116992 SCV000085012 not provided not specified 2013-09-19 no assertion provided reference population
Genetic Services Laboratory, University of Chicago RCV000116992 SCV000151113 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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