ClinVar Miner

Submissions for variant NM_000400.4(ERCC2):c.47A>G (p.Tyr16Cys) (rs147972150)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000893772 SCV001037728 likely benign not provided 2018-01-12 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001136196 SCV001296020 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 RCV001292799 SCV001481453 uncertain significance Trichothiodystrophy 1, photosensitive 2020-03-10 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Baylor Genetics RCV001329858 SCV001521407 uncertain significance Cerebrooculofacioskeletal syndrome 2 2019-06-05 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
ITMI RCV000120770 SCV000084934 not provided not specified 2013-09-19 no assertion provided reference population

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