ClinVar Miner

Submissions for variant NM_006892.4(DNMT3B):c.307-49C>T

gnomAD frequency: 0.52532  dbSNP: rs2424913
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001522267 SCV001731782 benign Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004717806 SCV005315078 benign not provided criteria provided, single submitter not provided

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