ClinVar Miner

Submissions for variant NM_001193466.1(KANSL1):c.1652C>T (p.Thr551Ile) (rs778178483)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000712036 SCV000842450 benign not provided 2017-12-06 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000466219 SCV000898764 uncertain significance Koolen-de Vries syndrome 2017-12-14 criteria provided, single submitter clinical testing KANSL1 NM_001193466.1 exon 5 p.Thr551Ile (c.1652C>T): This variant has not been reported in the literature but is present in 0.1% (43/34332) of Latino alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs778178483). This variant is present in ClinVar (Variation ID:379763). Evolutionary conservation and computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
GeneDx RCV000432986 SCV000517160 likely benign not specified 2015-07-10 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.
Invitae RCV000466219 SCV000559735 likely benign Koolen-de Vries syndrome 2017-03-21 criteria provided, single submitter clinical testing

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