ClinVar Miner

Submissions for variant NM_174916.3(UBR1):c.3848+5G>A

dbSNP: rs2141276718
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001797013 SCV002038528 uncertain significance Johanson-Blizzard syndrome 2021-04-06 criteria provided, single submitter clinical testing The UBR1 c.3848+5G>A variant is an intronic variant. A literature search was performed for the gene and cDNA change. No publications were found based on this search. This variant is not found in the Genome Aggregation Database in a region of good sequence coverage, so the variant is presumed to be rare. Based on the limited evidence, the c.3848+5G>A variant is classified as a variant of uncertain significance for Johanson-Blizzard syndrome.

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