ClinVar Miner

Submissions for variant NM_002025.4(AFF2):c.3404+7A>G

gnomAD frequency: 0.95464  dbSNP: rs5980615
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000079971 SCV000111862 benign not specified 2016-06-21 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001548979 SCV001769006 benign FRAXE 2021-07-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004713231 SCV005279663 benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000079971 SCV000150159 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.

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