ClinVar Miner

Submissions for variant NM_199242.3(UNC13D):c.3270G>A (p.Pro1090=)

gnomAD frequency: 0.00003  dbSNP: rs545430645
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000640114 SCV000761702 benign Familial hemophagocytic lymphohistiocytosis 3 2024-01-31 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002263873 SCV002543185 likely benign Autoinflammatory syndrome 2021-03-26 criteria provided, single submitter clinical testing

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