ClinVar Miner

Submissions for variant NM_199242.3(UNC13D):c.154-9G>A

dbSNP: rs2064962405
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002252382 SCV002523497 uncertain significance See cases 2020-02-06 criteria provided, single submitter clinical testing ACMG classification criteria: PM2, BP4
Labcorp Genetics (formerly Invitae), Labcorp RCV003497946 SCV004337341 likely benign Familial hemophagocytic lymphohistiocytosis 3 2023-10-16 criteria provided, single submitter clinical testing

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