ClinVar Miner

Submissions for variant NM_004715.5(CTDP1):c.978G>A (p.Thr326=) (rs599554)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001675937 SCV001892771 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000613005 SCV000733806 benign Congenital cataracts-facial dysmorphism-neuropathy syndrome no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV001700171 SCV001924720 benign not specified no assertion criteria provided clinical testing

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