ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.2878G>A (p.Gly960Ser)

gnomAD frequency: 0.00001  dbSNP: rs1315792143
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000601126 SCV000732375 likely benign not specified 2017-05-18 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001364392 SCV001560538 uncertain significance Koolen-de Vries syndrome 2021-09-01 criteria provided, single submitter clinical testing

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