ClinVar Miner

Submissions for variant NC_000013.11:g.46968080_87381985del40413906

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Cytogenetics and Molecular Genetics Laboratory,IRCCS Istituto Auxologico Italiano RCV000721955 SCV000748684 pathogenic Chromosome 13q14 deletion syndrome criteria provided, single submitter research In a patient with a very mild phenotype, a de novo 13q14.13-13q31.1 mosaic deletion has been identified. Deletions in these genomic regions are responsible of a wide phenotypic spectrum known as "13q deletion syndrome" (Allerderdice, et al., 1969, Tranebjaerg et al., 1988, Brown et al., 1993, Brown et al., 1995, Van Buggenhout et al., 1999, Ballarati et al., 2007). Based on literature evidences, this deletion meets the criteria to be classified as pathogenic (ACMG Guidelines, 2011). In summary, the mosaic condition of 13q deletion very likely explain the mild phenotype observed in the patient.

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