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rs201700756

  • Conflicting interpretations of pathogenicity

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Description

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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

Reference Allele

G


Alternative Allele

C

Chromosome

10


Location

78029442


Variant Type

SNP

Genes

ClinVar

Name

NM_007055.4(POLR3A):c.-35C>G


Allele

C


Clinical Significance

Conflicting interpretations of pathogenicity

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