ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.2152T>C (p.Ser718Pro)

gnomAD frequency: 0.14471  dbSNP: rs34043286
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000712038 SCV000842452 benign not provided 2017-04-20 criteria provided, single submitter clinical testing
Invitae RCV001514687 SCV001722591 benign Koolen-de Vries syndrome 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000712038 SCV001887051 benign not provided 2015-03-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23222517)

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