ClinVar Miner

Submissions for variant NM_004715.5(CTDP1):c.181T>G (p.Ser61Ala) (rs17855830)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins NTD, LLC RCV000173356 SCV000224458 benign not specified 2018-04-10 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000173356 SCV000310619 benign not specified criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001657943 SCV001876377 benign Congenital cataracts-facial dysmorphism-neuropathy syndrome 2021-07-30 criteria provided, single submitter clinical testing
GeneDx RCV001668329 SCV001883618 benign not provided 2015-03-03 criteria provided, single submitter clinical testing

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