ClinVar Miner

Submissions for variant NM_018082.6(POLR3B):c.3396T>C (p.Asn1132=)

gnomAD frequency: 0.24486  dbSNP: rs13561
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000329648 SCV000375615 benign Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism 2018-01-12 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001513964 SCV001721680 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001513964 SCV001944741 benign not provided 2018-08-13 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000329648 SCV002031720 benign Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism 2021-10-25 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001513964 SCV005235588 benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000118027 SCV000152345 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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