ClinVar Miner

Submissions for variant NM_006785.4(MALT1):c.1223-20_1223-17del

gnomAD frequency: 0.00553  dbSNP: rs558928879
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514899 SCV000610739 likely benign not provided 2017-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001000565 SCV001157520 benign Combined immunodeficiency due to MALT1 deficiency 2019-05-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001000565 SCV001729207 benign Combined immunodeficiency due to MALT1 deficiency 2025-02-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001000565 SCV002804151 likely benign Combined immunodeficiency due to MALT1 deficiency 2022-04-14 criteria provided, single submitter clinical testing

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