ClinVar Miner

Submissions for variant NM_199242.3(UNC13D):c.1626G>A (p.Thr542=)

gnomAD frequency: 0.00010  dbSNP: rs371924071
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001432424 SCV001635195 likely benign Familial hemophagocytic lymphohistiocytosis 3 2024-01-22 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264316 SCV002543134 uncertain significance Autoinflammatory syndrome 2022-04-04 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV003151315 SCV003839200 likely benign not specified 2022-05-09 no assertion criteria provided clinical testing

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