ClinVar Miner

Submissions for variant NM_004456.5(EZH2):c.44G>T (p.Trp15Leu)

dbSNP: rs760133156
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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 RCV001270773 SCV001451525 uncertain significance Weaver syndrome 2019-06-27 criteria provided, single submitter clinical testing The EZH2 c.44G>T (p.Trp15Leu) variant is a missense variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is not found in the Genome Aggregation Database in a region of good sequencing coverage, so the variant is presumed to be rare. Based on the limited evidence, the p.Trp15Leu variant is classified as a variant of uncertain significance for Weaver syndrome.

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