ClinVar Miner

Submissions for variant NM_000531.5(OTC):c.-139A>G (rs1555971001)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Caldovic Lab,Children's National Health System RCV000627033 SCV000612174 likely pathogenic Ornithine carbamoyltransferase deficiency 2017-12-12 no assertion criteria provided research The patient had clinical and biochemical symptoms of OTC deficiency, and no disease causing sequence variants in the OTC coding sequence and canonical splice sites. Functional testing in cultured cells indicates reduced expression of reporter gene.

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