ClinVar Miner

Submissions for variant NM_018294.6(CWF19L1):c.479G>A (p.Cys160Tyr)

gnomAD frequency: 0.21966  dbSNP: rs2270962
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breakthrough Genomics, Breakthrough Genomics RCV004717955 SCV005320007 benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000116858 SCV000150932 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
PreventionGenetics, part of Exact Sciences RCV003975016 SCV004794123 benign CWF19L1-related disorder 2019-10-30 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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