ClinVar Miner

Submissions for variant NM_007055.4(POLR3A):c.927C>T (p.Asp309=)

gnomAD frequency: 0.00287  dbSNP: rs41274610
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000193190 SCV000248566 uncertain significance not specified 2014-06-27 criteria provided, single submitter clinical testing
Invitae RCV000891282 SCV001035093 benign not provided 2021-12-15 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV001104983 SCV001261897 likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
CeGaT Center for Human Genetics Tuebingen RCV000891282 SCV002062928 likely benign not provided 2021-12-01 criteria provided, single submitter clinical testing

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