ClinVar Miner

Submissions for variant NM_080424.4(SP110):c.2029-7_2029-6del

dbSNP: rs773164340
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000335840 SCV000428317 uncertain significance Hepatic veno-occlusive disease-immunodeficiency syndrome 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000335840 SCV001681581 likely benign Hepatic veno-occlusive disease-immunodeficiency syndrome 2024-10-29 criteria provided, single submitter clinical testing

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