ClinVar Miner

Submissions for variant NM_001193466.2(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
GeneDx RCV000712036 SCV000517160 benign not provided 2021-04-21 criteria provided, single submitter clinical testing
Invitae RCV000466219 SCV000559735 likely benign Koolen-de Vries syndrome 2020-11-29 criteria provided, single submitter clinical testing
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.

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