ClinVar Miner

Submissions for variant NM_001080522.2(CC2D2A):c.4065+28A>T (rs6832789)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000114179 SCV000147731 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 RCV000114179 SCV000306445 benign not specified criteria provided, single submitter clinical testing

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