ClinVar Miner

Submissions for variant NM_004715.4(CTDP1):c.863+389C>T (rs113994102)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV001092097 SCV001248460 pathogenic not provided 2021-01-01 criteria provided, single submitter clinical testing
OMIM RCV000005622 SCV000025804 pathogenic Congenital cataracts-facial dysmorphism-neuropathy syndrome 2004-10-01 no assertion criteria provided literature only
GeneReviews RCV000005622 SCV000041120 pathologic Congenital cataracts-facial dysmorphism-neuropathy syndrome 2012-08-16 no assertion criteria provided curation Converted during submission to Pathogenic.
Inherited Neuropathy Consortium RCV000789083 SCV000928432 pathogenic Charcot-Marie-Tooth disease no assertion criteria provided literature only

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