ClinVar Miner

Submissions for variant NM_022552.5(DNMT3A):c.2312G>A (p.Arg771Gln) (rs757823678)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000624769 SCV000741691 pathogenic Inborn genetic diseases 2017-11-21 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals RCV000505187 SCV000599255 likely pathogenic Tatton-Brown-rahman syndrome 2016-11-30 no assertion criteria provided clinical testing

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