ClinVar Miner

Submissions for variant GRCh37/hg19 15q26.2(chr15:96878571-96880063)x1

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Genetics Lab, Policlinico S. Orsola.Malpighi RCV000660867 SCV000778828 likely pathogenic Congenital heart defects, multiple types, 4 2018-05-17 criteria provided, single submitter clinical testing Heterozygous (including loss of function) variants in NRF2F2 were identified in several patients with congenital heart defect and/or diaphragmatic hernia. The deletion that was detected in this patient is of de novo origin, parents are healthy, and the phenotype (coarctation of the aorta and diaphragmatic hernia) of this patient is highly specific for NRF2F2.

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