ClinVar Miner

Submissions for variant NM_014646.2(LPIN2):c.540_541del (p.Thr180_Cys181insTer) (rs80338806)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000005191 SCV000041268 pathologic Majeed syndrome 2008-09-23 no assertion criteria provided curation Converted during submission to Pathogenic.
OMIM RCV000005191 SCV000025368 pathogenic Majeed syndrome 2005-07-01 no assertion criteria provided literature only
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000005191 SCV000116194 not provided Majeed syndrome no assertion provided not provided

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