ClinVar Miner

Submissions for variant NM_006785.4(MALT1):c.1753+16T>A

gnomAD frequency: 0.00001  dbSNP: rs1568155848
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002160066 SCV002420471 likely benign Combined immunodeficiency due to MALT1 deficiency 2023-09-06 criteria provided, single submitter clinical testing

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