ClinVar Miner

Submissions for variant NM_007055.4(POLR3A):c.2938A>G (p.Ile980Val)

gnomAD frequency: 0.00439  dbSNP: rs146253630
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000195147 SCV000248565 benign not specified 2019-11-15 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000315210 SCV000365221 benign Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome 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.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000425769 SCV000510839 likely benign not provided 2016-06-27 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Invitae RCV000425769 SCV001110400 benign not provided 2021-12-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000425769 SCV001148003 benign not provided 2022-05-01 criteria provided, single submitter clinical testing
GeneDx RCV000425769 SCV001859740 benign not provided 2021-06-09 criteria provided, single submitter clinical testing

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