ClinVar Miner

Submissions for variant NM_006297.3(XRCC1):c.1196A>G (p.Gln399Arg)

gnomAD frequency: 0.71503  dbSNP: rs25487
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PharmGKB RCV000660800 SCV000783039 drug response Platinum compounds 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.
GeneDx RCV001696185 SCV001916109 benign not provided 2020-07-31 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 21427728, 15113441, 19481337, 11782372, 23479765, 14630517, 21843798, 22053659, 22951806, 24176953, 22224629, 22106831, 23360319, 21987112, 21928248, 18641418, 22193858, 19012493, 22525558, 22712837, 19880550, 22302399, 22983827, 21617750, 20431719, 23499241, 19465687, 20385586, 18357393, 21647176, 19051060, 23055018, 17961713, 22868082, 22568010, 19428062, 11104903, 24205020)
Genome-Nilou Lab RCV002243894 SCV002514031 benign Spinocerebellar ataxia, autosomal recessive 26 2021-12-05 criteria provided, single submitter clinical testing

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