ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.477G>T (p.Lys159Asn)

gnomAD frequency: 0.00011  dbSNP: rs188294801
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187755 SCV000241352 likely benign not specified 2017-10-09 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 RCV001034272 SCV001197609 benign Koolen-de Vries syndrome 2023-11-27 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV001289011 SCV001476499 likely benign not provided 2020-04-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001289011 SCV004140753 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing KANSL1: BP1, BS2

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