ClinVar Miner

Submissions for variant NC_000007.14:g.73773313_74086695del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cytogenetics and Genomics Lab,Cyprus Institute Of Neurology and Genetics RCV001257043 SCV001432713 pathogenic Williams syndrome no assertion criteria provided clinical testing This a novel and atypical deletion within WBS region, encompassing ELN gene which is responsible for cardiovascular abnormalities in WBS patients. The deletion is inherited from the patient's mother and is also present in the younger brother. The mother has Ventricular Septal Defect (VSD) and the brother has mild supravalvular aortic stenosis (SVAS). The patient, who passed away 47 days after birth, had more severe SVAS and patent foramen ovale (PFO), while he is also heterozygous for a 22q11.21 microduplication, which may have contributed to the severity of his cardiovascular anomalies.

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