ClinVar Miner

Submissions for variant NM_000123.4(ERCC5):c.2778C>G (p.Gly926=) (rs9518857)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000625480 SCV000382118 likely benign Xeroderma pigmentosum, group G 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 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.
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000625480 SCV000745532 likely benign Xeroderma pigmentosum, group G 2017-06-28 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000625480 SCV000745993 likely benign Xeroderma pigmentosum, group G 2016-07-11 criteria provided, single submitter clinical testing
Invitae RCV000861187 SCV001001432 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000861187 SCV001371341 likely benign not provided 2020-06-01 criteria provided, single submitter clinical testing
GeneDx RCV000861187 SCV001812376 likely benign not provided 2021-04-22 criteria provided, single submitter clinical testing

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