ClinVar Miner

Submissions for variant NM_001375808.2(LPIN2):c.540_541del (p.Thr180_Cys181insTer)

dbSNP: rs80338806
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000005191 SCV000025368 pathogenic Majeed syndrome 2005-07-01 no assertion criteria provided literature only
GeneReviews RCV000005191 SCV000041268 not provided Majeed syndrome no assertion 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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