ClinVar Miner

Submissions for variant NM_199242.3(UNC13D):c.2370C>T (p.Ala790=)

gnomAD frequency: 0.00001  dbSNP: rs747428323
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264556 SCV002543157 uncertain significance Autoinflammatory syndrome 2017-12-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003101475 SCV003508344 likely benign Familial hemophagocytic lymphohistiocytosis 3 2023-11-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003903644 SCV004720356 likely benign UNC13D-related disorder 2019-06-18 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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