ClinVar Miner

Submissions for variant NM_000476.3(AK1):c.238A>G (p.Met80Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003141289 SCV003823091 uncertain significance Hemolytic anemia due to adenylate kinase deficiency 2023-03-16 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003141289 SCV004563474 uncertain significance Hemolytic anemia due to adenylate kinase deficiency 2023-10-27 criteria provided, single submitter clinical testing

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