ClinVar Miner

Submissions for variant NM_004715.4(CTDP1):c.2817T>C (p.Asp939=) (rs626169)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000116845 SCV000310621 benign not specified criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000116845 SCV000150919 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.
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000609865 SCV000733808 benign Congenital cataracts-facial dysmorphism-neuropathy syndrome no assertion criteria provided clinical testing

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