ClinVar Miner

Submissions for variant NM_014797.2(ZBTB24):c.146G>A (p.Arg49Gln) (rs147441359)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University RCV000578131 SCV000583546 uncertain significance Kabuki syndrome 1 criteria provided, single submitter research
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000238885 SCV000297242 benign not specified 2015-07-30 criteria provided, single submitter clinical testing
Invitae RCV000649294 SCV000771120 benign Immunodeficiency-centromeric instability-facial anomalies syndrome 2 2017-12-22 criteria provided, single submitter clinical testing

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