ClinVar Miner

Submissions for variant NM_199242.3(UNC13D):c.2973G>A (p.Pro991=)

gnomAD frequency: 0.00011  dbSNP: rs564875531
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001417539 SCV001619743 likely benign Familial hemophagocytic lymphohistiocytosis 3 2024-01-09 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264307 SCV002543175 uncertain significance Autoinflammatory syndrome 2020-10-27 criteria provided, single submitter clinical testing

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