ClinVar Miner

Submissions for variant GRCh38/hg38 2p16.3(chr2:50399054-50579740)x1

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV004787174 SCV005395960 pathogenic Chromosome 2p16.3 deletion syndrome criteria provided, single submitter clinical testing The above-mentioned CNV was observed in heterozygous state in proband and her mother. 2p16.3 microdeletion syndrome is associated with reduced penetrance (Al Shehhi et al., 2019). Individuals with this microdeletion syndrome have been reported with intellectual disability, speech delay, and susceptibility to autism and schizophrenia (Dabell et al., 2013). The clinical features observed in proband are in concordance with 2p16.3 microdeletion syndrome. Hence, the above-mentioned CNV is the likely cause of the clinical findings observed in her.

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