ClinVar Miner

Submissions for variant NM_001193466.2(KANSL1):c.2751C>T (p.Phe917=) (rs36076725)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000269584 SCV000403607 benign Syndromic intellectual disability 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000294929 SCV000483647 benign MAPT-Related Spectrum Disorders 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712041 SCV000842455 benign not provided 2017-04-20 criteria provided, single submitter clinical testing
Invitae RCV001510743 SCV001717853 benign Koolen-de Vries syndrome 2020-12-08 criteria provided, single submitter clinical testing
GeneDx RCV000712041 SCV001829448 benign not provided 2015-03-03 criteria provided, single submitter clinical testing

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