ClinVar Miner

Submissions for variant NM_001193466.2(KANSL1):c.3254T>C (p.Ile1085Thr) (rs34579536)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000329895 SCV000483645 benign MAPT-Related Spectrum Disorders 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712044 SCV000842458 benign not provided 2017-04-20 criteria provided, single submitter clinical testing
Invitae RCV001510742 SCV001717852 benign Koolen-de Vries syndrome 2020-12-08 criteria provided, single submitter clinical testing
GeneDx RCV000712044 SCV001904075 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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