ClinVar Miner

Submissions for variant NM_000400.4(ERCC2):c.2191-4G>A

gnomAD frequency: 0.00143  dbSNP: rs201840907
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000967520 SCV001114907 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001135983 SCV001295795 likely benign Xeroderma pigmentosum, group D 2018-01-12 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.
Baylor Genetics RCV001294171 SCV001483000 uncertain significance Trichothiodystrophy 1, photosensitive 2019-04-15 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Sema4, Sema4 RCV002256635 SCV002531593 benign Xeroderma pigmentosum 2020-11-30 criteria provided, single submitter curation

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