ClinVar Miner

Submissions for variant NM_000476.3(AK1):c.319C>T (p.Arg107Ter)

dbSNP: rs104894102
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV000019926 SCV003829041 likely pathogenic Hemolytic anemia due to adenylate kinase deficiency 2022-06-26 criteria provided, single submitter clinical testing
OMIM RCV000019926 SCV000040224 pathogenic Hemolytic anemia due to adenylate kinase deficiency 1999-04-01 no assertion criteria provided literature only

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