ClinVar Miner

Submissions for variant NM_006785.4(MALT1):c.1302T>C (p.Tyr434=)

gnomAD frequency: 0.00003  dbSNP: rs202104175
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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 RCV000686652 SCV000814180 likely benign Combined immunodeficiency due to MALT1 deficiency 2021-10-20 criteria provided, single submitter clinical testing

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