ClinVar Miner

Submissions for variant NM_000082.4(ERCC8):c.839C>A (rs61754098)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000180462 SCV000232907 likely benign not specified 2016-07-12 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000332330 SCV000458023 uncertain significance Cockayne syndrome type A 2018-01-13 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx RCV000584926 SCV000616710 likely benign not provided 2021-06-07 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge
CeGaT Praxis fuer Humangenetik Tuebingen RCV000584926 SCV000693172 uncertain significance not provided 2020-06-01 criteria provided, single submitter clinical testing
Invitae RCV000584926 SCV001005969 benign not provided 2020-12-07 criteria provided, single submitter clinical testing
Molecular Oncology Research Center,Barretos Cancer Hospital RCV001374546 SCV001438625 uncertain significance Hereditary breast and ovarian cancer syndrome 2020-08-01 criteria provided, single submitter research

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