ClinVar Miner

Submissions for variant NM_199242.3(UNC13D):c.321+9G>A

dbSNP: rs779684660
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002191425 SCV002489050 likely benign Familial hemophagocytic lymphohistiocytosis 3 2023-05-08 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264479 SCV002543183 uncertain significance Autoinflammatory syndrome 2016-12-12 criteria provided, single submitter clinical testing

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