ClinVar Miner

Submissions for variant NM_001002010.5(NT5C3A):c.861G>A (p.Glu287=)

gnomAD frequency: 0.00310  dbSNP: rs72555746
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000961779 SCV001108833 benign not provided 2025-01-23 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001286944 SCV001473573 benign Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency 2021-05-25 criteria provided, single submitter clinical testing

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