ClinVar Miner

Submissions for variant NM_199242.3(UNC13D):c.1611G>A (p.Val537=)

gnomAD frequency: 0.00001  dbSNP: rs538427767
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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 RCV000252180 SCV000317107 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001511329 SCV001718552 benign Familial hemophagocytic lymphohistiocytosis 3 2024-01-01 criteria provided, single submitter clinical testing

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