ClinVar Miner

Submissions for variant NM_005214.5(CTLA4):c.567+5G>C

dbSNP: rs606231419
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000148292 SCV000195680 pathogenic Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency 2014-09-26 no assertion criteria provided literature only

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