ClinVar Miner

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

gnomAD frequency: 0.00174  dbSNP: rs142096969
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Total submissions: 7
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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 2022-10-25 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712049 SCV000842463 benign not provided 2018-06-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000712049 SCV002545945 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing KANSL1: BP4, BS1
Ambry Genetics RCV002514014 SCV003678874 likely benign Inborn genetic diseases 2022-03-29 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 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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