ClinVar Miner

Submissions for variant NM_007055.4(POLR3A):c.1745G>T (p.Arg582Leu)

dbSNP: rs34588967
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000889344 SCV001033021 benign not provided 2021-12-17 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV001108263 SCV001265483 benign Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
GeneDx RCV000889344 SCV001848459 benign not provided 2021-05-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000889344 SCV002497052 benign not provided 2022-03-01 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000118024 SCV000152342 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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