ClinVar Miner

Submissions for variant NM_006785.4(MALT1):c.2290C>T (p.His764Tyr)

gnomAD frequency: 0.00001  dbSNP: rs574490390
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001839135 SCV002099055 uncertain significance Combined immunodeficiency due to MALT1 deficiency 2021-03-22 criteria provided, single submitter clinical testing

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