ClinVar Miner

Submissions for variant NM_033453.4(ITPA):c.124+21A>C

gnomAD frequency: 0.09874  dbSNP: rs7270101
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PharmGKB RCV001787329 SCV000494720 drug response peginterferon alfa-2b and ribavirin response - Toxicity 2021-03-24 reviewed by expert panel curation PharmGKB Level of Evidence 2B: Variants in Level 2B clinical annotations are not in PharmGKB’s Tier 1 VIPs. These clinical annotations describe variant-drug combinations with a moderate level of evidence supporting the association. For example, the association may be found in multiple cohorts, but there may be a minority of studies that do not support the majority assertion. Level 2B clinical annotations must be supported by at least two independent publications.
Labcorp Genetics (formerly Invitae), Labcorp RCV000015868 SCV001726919 benign Inosine triphosphatase deficiency 2025-01-22 criteria provided, single submitter clinical testing
GeneDx RCV001675581 SCV001893443 benign not provided 2021-05-12 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 19579612, 12384777, 20547162, 22613675, 17113761, 20173735, 22939045)
Genome-Nilou Lab RCV001730474 SCV001980785 benign Developmental and epileptic encephalopathy, 35 2021-08-19 criteria provided, single submitter clinical testing
OMIM RCV000015868 SCV000036135 affects Inosine triphosphatase deficiency 2002-10-01 no assertion criteria provided literature only

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