ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.2158C>T (p.Arg720Cys)

gnomAD frequency: 0.00001  dbSNP: rs376233499
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704997 SCV000241327 likely benign not provided 2018-04-24 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001196854 SCV001367487 uncertain significance Koolen-de Vries syndrome 2019-03-20 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PP3,BP1.
Labcorp Genetics (formerly Invitae), Labcorp RCV001196854 SCV003442281 benign Koolen-de Vries syndrome 2025-01-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001196854 SCV005644115 uncertain significance Koolen-de Vries syndrome 2024-01-22 criteria provided, single submitter clinical testing

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