ClinVar Miner

Submissions for variant NM_006892.4(DNMT3B):c.2421-4C>T

gnomAD frequency: 0.00001  dbSNP: rs766802588
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001001318 SCV001158503 likely benign Immunodeficiency-centromeric instability-facial anomalies syndrome 1 2019-06-18 criteria provided, single submitter clinical testing
Invitae RCV003758954 SCV004535689 likely benign Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency 2024-01-08 criteria provided, single submitter clinical testing

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