ClinVar Miner

Submissions for variant NM_199242.3(UNC13D):c.594G>A (p.Ala198=)

gnomAD frequency: 0.00001  dbSNP: rs755967157
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000252741 SCV000317133 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002058488 SCV002322398 likely benign Familial hemophagocytic lymphohistiocytosis 3 2024-01-21 criteria provided, single submitter clinical testing

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