ClinVar Miner

Submissions for variant NM_000107.3(DDB2):c.127+5T>G

gnomAD frequency: 0.00148  dbSNP: rs199965459
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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 RCV000860803 SCV001000959 benign not provided 2023-03-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001104634 SCV001261512 uncertain significance Xeroderma pigmentosum, group E 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Sema4, Sema4 RCV002257998 SCV002534357 likely benign Xeroderma pigmentosum 2021-08-17 criteria provided, single submitter curation
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579936 SCV001809108 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000860803 SCV001974584 likely benign not provided no assertion criteria provided clinical testing

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