ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.3306G>A (p.Pro1102=)

gnomAD frequency: 0.00006  dbSNP: rs143746890
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000419139 SCV000513331 likely benign not specified 2016-02-05 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000866421 SCV001007511 benign Koolen-de Vries syndrome 2023-11-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000866421 SCV002810151 likely benign Koolen-de Vries syndrome 2021-08-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003422387 SCV004140728 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing KANSL1: BP4, BP7

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