ClinVar Miner

Submissions for variant NM_000400.4(ERCC2):c.1119-5G>A

gnomAD frequency: 0.00021  dbSNP: rs369538318
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000913781 SCV001058937 likely benign not provided 2024-01-26 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002256081 SCV002531543 likely benign Xeroderma pigmentosum 2021-05-17 criteria provided, single submitter curation
Ambry Genetics RCV002514657 SCV003742017 uncertain significance Inborn genetic diseases 2021-11-16 criteria provided, single submitter clinical testing The c.1119-5G>A intronic alteration consists of a G to A substitution 5 nucleotides before exon 12 of the ERCC2 gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
ITMI RCV000122383 SCV000083934 not provided not specified 2013-09-19 no assertion provided reference population
PreventionGenetics, part of Exact Sciences RCV004530044 SCV004753704 likely benign ERCC2-related disorder 2019-11-04 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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