ClinVar Miner

Submissions for variant NM_006785.4(MALT1):c.1236T>C (p.Tyr412=)

gnomAD frequency: 0.00001  dbSNP: rs750258421
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001492942 SCV001697562 likely benign Combined immunodeficiency due to MALT1 deficiency 2020-04-23 criteria provided, single submitter clinical testing

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