ClinVar Miner

Submissions for variant NC_000019.10:g.39252525T>G

gnomAD frequency: 0.15536  dbSNP: rs8099917
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PharmGKB RCV000211192 SCV000268411 drug response interferons, peginterferon alfa-2a, peginterferon alfa-2b, and ribavirin response - Efficacy 2021-03-29 reviewed by expert panel curation PharmGKB Level of Evidence 1B: Level 1B clinical annotations describe variant-drug combinations with a high level of evidence supporting the association but no variant-specific prescribing guidance in an annotated clinical guideline or FDA drug label. Level 1B clinical annotations must be supported by at least two independent publications.
PharmGKB RCV000211316 SCV000268412 drug response peginterferon alfa-2a, peginterferon alfa-2b, ribavirin, and telaprevir response - Efficacy 2021-03-24 reviewed by expert panel curation PharmGKB Level of Evidence 2A: Variants in Level 2A clinical annotations are found in PharmGKB’s Tier 1 Very Important Pharmacogenes (VIPs). These variants are in known pharmacogenes, implying causation of drug phenotype is more likely. 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 2A clinical annotations must be supported by at least two independent publications.
GeneDx RCV000835188 SCV000976971 benign not provided 2018-03-14 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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