ClinVar Miner

Submissions for variant NM_000476.3(AK1):c.535G>C (p.Val179Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003141285 SCV003823085 uncertain significance Hemolytic anemia due to adenylate kinase deficiency 2021-09-16 criteria provided, single submitter clinical testing

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