ClinVar Miner

Submissions for variant NM_004044.7(ATIC):c.1503+675T>C

gnomAD frequency: 0.25749  dbSNP: rs4673993
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PharmGKB RCV000211326 SCV000268338 drug response methotrexate response - Efficacy 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.
Invitae RCV002054365 SCV002405132 benign not provided 2024-01-29 criteria provided, single submitter clinical testing

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