ClinVar Miner

Submissions for variant NM_005802.5(TOPORS):c.2160C>T (p.Tyr720=)

gnomAD frequency: 0.00561  dbSNP: rs74328058
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000397572 SCV000337024 benign not specified 2015-12-04 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000297910 SCV000479580 benign Retinitis pigmentosa 2018-01-13 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV000954947 SCV001101615 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001000302 SCV001156979 benign Retinitis pigmentosa 31 2021-11-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000954947 SCV002545671 likely benign not provided 2023-08-01 criteria provided, single submitter clinical testing TOPORS: BP4, BP7, BS2
Fulgent Genetics, Fulgent Genetics RCV001000302 SCV002807723 likely benign Retinitis pigmentosa 31 2021-11-03 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000954947 SCV001925431 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000954947 SCV001965822 likely benign not provided no assertion criteria provided clinical testing

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