ClinVar Miner

Submissions for variant NM_004715.4(CTDP1):c.1461G>A (p.Pro487=) (rs2126082)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000401492 SCV000340433 benign not specified 2016-03-18 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000602719 SCV000733807 benign Congenital cataracts-facial dysmorphism-neuropathy syndrome no assertion criteria provided clinical testing

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