ClinVar Miner

Submissions for variant NM_000476.3(AK1):c.530G>T (p.Gly177Val)

dbSNP: rs201453879
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001002501 SCV001160458 uncertain significance Hemolytic anemia due to adenylate kinase deficiency 2019-05-01 criteria provided, single submitter clinical testing

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