ClinVar Miner

Submissions for variant NM_199242.3(UNC13D):c.261+9G>A

gnomAD frequency: 0.00002  dbSNP: rs754902598
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001469516 SCV001673596 likely benign Familial hemophagocytic lymphohistiocytosis 3 2023-12-12 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264338 SCV002543167 uncertain significance Autoinflammatory syndrome 2018-10-01 criteria provided, single submitter clinical testing

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