ClinVar Miner

Submissions for variant NM_001167.4(XIAP):c.1045_1047GAG[1] (p.Glu350del) (rs199683465)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000490405 SCV000267565 uncertain significance Lymphoproliferative syndrome 2, X-linked 2016-03-18 criteria provided, single submitter reference population
Invitae RCV000490405 SCV001069922 benign Lymphoproliferative syndrome 2, X-linked 2019-12-31 criteria provided, single submitter clinical testing
OMIM RCV000490405 SCV000611882 pathogenic Lymphoproliferative syndrome 2, X-linked 2017-12-05 no assertion criteria provided literature only

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