ClinVar Miner

Submissions for variant NM_199242.3(UNC13D):c.1202C>T (p.Ser401Phe)

dbSNP: rs758867274
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264548 SCV002543126 uncertain significance Autoinflammatory syndrome 2016-12-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002496196 SCV002786695 uncertain significance Familial hemophagocytic lymphohistiocytosis 3 2022-03-28 criteria provided, single submitter clinical testing

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