ClinVar Miner

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

dbSNP: rs199683465
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Total submissions: 5
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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 X-linked lymphoproliferative disease due to XIAP deficiency 2016-03-18 criteria provided, single submitter reference population
Invitae RCV000490405 SCV001069922 benign X-linked lymphoproliferative disease due to XIAP deficiency 2024-01-19 criteria provided, single submitter clinical testing
GeneDx RCV003325468 SCV004031591 likely benign not provided 2023-03-02 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
PreventionGenetics, part of Exact Sciences RCV003967566 SCV004776495 likely benign XIAP-related disorder 2023-12-14 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
OMIM RCV000490405 SCV000611882 pathogenic X-linked lymphoproliferative disease due to XIAP deficiency 2017-12-05 no assertion criteria provided literature only

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