ClinVar Miner

Submissions for variant NM_001193466.1(KANSL1):c.2294C>T (p.Ala765Val) (rs151099014)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000423429 SCV000510976 likely benign not provided 2016-11-02 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
GeneDx RCV000419819 SCV000513328 likely benign not specified 2017-03-24 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,Illumina RCV000341645 SCV000403617 likely benign Syndromic intellectual disability 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000545647 SCV000645044 benign Koolen-de Vries syndrome 2017-12-13 criteria provided, single submitter clinical testing

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