ClinVar Miner

Submissions for variant NM_005228.5(EGFR):c.2573T>G (p.Leu858Arg)

dbSNP: rs121434568
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PharmGKB RCV000211323 SCV000268169 drug response gefitinib response - Efficacy 2021-03-24 reviewed by expert panel curation PharmGKB Level of Evidence 1A: Level 1A clinical annotations describe variant-drug combinations that have variant-specific prescribing guidance available in a current clinical guideline annotation or an FDA-approved drug label annotation. Annotations of drug labels or clinical guidelines must give prescribing guidance for specific variants (e.g. CYP2C9*3, HLA-B*57:01) or provide mapping from defined allele functions to diplotypes and phenotypes to be used as supporting evidence for a level 1A clinical annotation. Level 1A clinical annotations must also be supported by at least one publication in addition to a clinical guideline or drug label with variant-specific prescribing guidance.
Mendelics RCV000987885 SCV001137371 pathogenic Lung carcinoma 2019-05-28 criteria provided, single submitter clinical testing
Liquid Biopsy and Cancer Interception Group, Pfizer-University of Granada-Junta de Andalucía Centre for Genomics and Oncological Research RCV000418019 SCV003806315 pathogenic Lung adenocarcinoma 2022-06-06 criteria provided, single submitter research
OMIM RCV000018083 SCV000038362 drug response Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, somatic 2005-05-19 no assertion criteria provided literature only
OMIM RCV000018084 SCV000038363 drug response Adenocarcinoma of lung, response to tyrosine kinase inhibitor in, somatic 2005-05-19 no assertion criteria provided literature only
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000150629 SCV000197954 drug response Tyrosine kinase inhibitor response 2006-10-28 no assertion criteria provided clinical testing
Database of Curated Mutations (DoCM) RCV000435684 SCV000504239 pathogenic Non-small cell lung carcinoma 2015-07-14 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000418019 SCV000504240 likely pathogenic Lung adenocarcinoma 2016-05-31 no assertion criteria provided literature only

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