ClinVar Miner

Submissions for variant NM_001167.4(XIAP):c.819G>A (p.Gly273=)

dbSNP: rs2148090248
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001532710 SCV001748381 likely benign not provided 2021-03-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003624457 SCV004384578 likely benign X-linked lymphoproliferative disease due to XIAP deficiency 2024-01-08 criteria provided, single submitter clinical testing

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