ClinVar Miner

Submissions for variant NM_001002010.5(NT5C3A):c.268A>G (p.Arg90Gly)

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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 RCV003613035 SCV004563662 uncertain significance Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency 2023-05-25 criteria provided, single submitter clinical testing

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