ClinVar Miner

Submissions for variant NM_006892.4(DNMT3B):c.142+3G>A

gnomAD frequency: 0.00001  dbSNP: rs779770844
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001334613 SCV001527504 uncertain significance Immunodeficiency-centromeric instability-facial anomalies syndrome 1 2018-10-17 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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