ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.2225G>A (p.Arg742Gln)

gnomAD frequency: 0.00001  dbSNP: rs752047149
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000513619 SCV000608823 uncertain significance not provided 2017-08-01 criteria provided, single submitter clinical testing
Invitae RCV001522310 SCV001731826 benign Koolen-de Vries syndrome 2021-02-04 criteria provided, single submitter clinical testing

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