ClinVar Miner

Submissions for variant NM_173660.5(DOK7):c.332-4G>A (rs199578351)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000116892 SCV000150978 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.
Invitae RCV000527370 SCV000640964 benign Pena-Shokeir syndrome type I; Myasthenia, limb-girdle, familial 2017-12-15 criteria provided, single submitter clinical testing
PreventionGenetics RCV000116892 SCV000316533 benign not specified criteria provided, single submitter clinical testing

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