ClinVar Miner

Submissions for variant NM_001739.2(CA5A):c.619-3421_774+502del

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000114948 SCV000148852 pathogenic Carbonic anhydrase VA deficiency, hyperammonemia due to 2014-03-06 no assertion criteria provided literature only
GeneReviews RCV000114948 SCV000221288 pathogenic Carbonic anhydrase VA deficiency, hyperammonemia due to 2021-08-24 no assertion criteria provided literature only The phenotype was not more severe in persons homozygous for this deletion (resulting in absence of carbonic anhydrase VA in the liver) than the phenotype observed w/other variants.

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