ClinVar Miner

Submissions for variant NM_033453.4(ITPA):c.366C>T (p.Thr122=)

gnomAD frequency: 0.00001  dbSNP: rs1358256041
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001497525 SCV001702257 likely benign Inosine triphosphatase deficiency 2024-07-24 criteria provided, single submitter clinical testing

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