ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.1022G>A (p.Arg341Gln)

gnomAD frequency: 0.00006  dbSNP: rs371321182
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000512890 SCV000608824 uncertain significance not provided 2017-06-01 criteria provided, single submitter clinical testing
Invitae RCV000512890 SCV001107408 likely benign not provided 2017-08-08 criteria provided, single submitter clinical testing
Invitae RCV001454174 SCV001657889 likely benign Koolen-de Vries syndrome 2021-06-19 criteria provided, single submitter clinical testing

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