ClinVar Miner

Submissions for variant GRCh38/hg38 5p13.3-12(chr5:29299893-45899898)x3

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam RCV003482191 SCV004222606 likely pathogenic See cases no assertion criteria provided clinical testing The patient with this CNV was presented with clinical features of ventricular septal defect (operated), atrial septal defect (operated), Hydrocephalus requiring multiple VP shunt and EVD placements (present), Pneumonia (present), Sepsis (present). Limited evidence was reported for this CNV.

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