ClinVar Miner

Submissions for variant NM_001143992.2(WRAP53):c.823-10C>T

gnomAD frequency: 0.00352  dbSNP: rs117192546
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000407428 SCV000407093 likely benign Dyskeratosis congenita, autosomal recessive 3 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000880548 SCV001023650 benign not provided 2025-01-30 criteria provided, single submitter clinical testing
GeneDx RCV000880548 SCV001755857 likely benign not provided 2018-10-19 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001820980 SCV002069234 likely benign not specified 2020-03-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000880548 SCV005218668 likely benign not provided criteria provided, single submitter not provided
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000407428 SCV005879551 likely benign Dyskeratosis congenita, autosomal recessive 3 2024-08-26 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000880548 SCV001798303 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000880548 SCV001964848 likely benign not provided no assertion criteria provided clinical testing

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