ClinVar Miner

Submissions for variant NM_199242.3(UNC13D):c.1232G>A (p.Arg411Gln)

gnomAD frequency: 0.00067  dbSNP: rs200109035
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000879454 SCV001022488 likely benign Familial hemophagocytic lymphohistiocytosis 3 2024-01-18 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264042 SCV002543130 uncertain significance Autoinflammatory syndrome 2016-12-12 criteria provided, single submitter clinical testing

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