ClinVar Miner

Submissions for variant NM_000123.4(ERCC5):c.960C>T (p.Asp320=)

gnomAD frequency: 0.00931  dbSNP: rs4150314
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000625474 SCV000745525 likely benign Xeroderma pigmentosum, group G 2015-09-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000861047 SCV001001256 benign not provided 2025-01-08 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000625474 SCV001271599 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV000861047 SCV001843618 benign not provided 2020-03-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000861047 SCV004135140 benign not provided 2024-11-01 criteria provided, single submitter clinical testing BIVM-ERCC5: BP4, BP7, BS1, BS2; ERCC5: BP4, BP7, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000861047 SCV005218240 likely benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000625474 SCV000745987 benign Xeroderma pigmentosum, group G 2015-08-07 no assertion criteria provided clinical testing

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