ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.727C>A (p.Gln243Lys) (rs142096969)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000712049 SCV000241361 benign not provided 2021-05-03 criteria provided, single submitter clinical testing Missense variant in a gene in which most reported pathogenic variants are truncating/loss-of-function; In silico analysis supports that this missense variant does not alter protein structure/function; Located in a region that tolerates variation and lacks pathogenic variants
Invitae RCV001085982 SCV000559738 likely benign Koolen-de Vries syndrome 2020-11-24 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712049 SCV000842463 benign not provided 2018-06-29 criteria provided, single submitter clinical testing
Human Genetics - Radboudumc,Radboudumc RCV001723759 SCV001956664 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000712049 SCV001966562 likely benign not provided no assertion criteria provided clinical testing

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