ClinVar Miner

Submissions for variant NM_007055.4(POLR3A):c.741G>A (p.Pro247=)

gnomAD frequency: 0.00484  dbSNP: rs12764690
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services,Illumina RCV000298275 SCV000365247 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.
Invitae RCV000952949 SCV001099489 benign not provided 2021-12-17 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000952949 SCV001502005 likely benign not provided 2022-02-01 criteria provided, single submitter clinical testing

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