ClinVar Miner

Submissions for variant NM_001002010.5(NT5C3A):c.139-9060del

dbSNP: rs143513903
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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 RCV001287233 SCV001473900 benign Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency 2023-10-24 criteria provided, single submitter clinical testing

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