Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV001249780 | SCV001423815 | uncertain significance | De Lange syndrome | 2019-12-02 | criteria provided, single submitter | clinical testing | The NIPBL c.5054C>T (p.Thr1685Ile) 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 reported at a frequency of 0.000087 in the Latino population of the Genome Aggregation Database. Based on the limited evidence, the p.Thr1685Ile variant is classified as a variant of unknown significance for Cornelia de Lange syndrome. |