ClinVar Miner

Submissions for variant NM_033453.4(ITPA):c.540G>A (p.Arg180=)

gnomAD frequency: 0.00039  dbSNP: rs202174987
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 RCV000972163 SCV001119858 benign Inosine triphosphatase deficiency 2024-12-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003438638 SCV004149803 likely benign not provided 2024-10-01 criteria provided, single submitter clinical testing ITPA: BP4, BP7

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