ClinVar Miner

Submissions for variant NM_177559.3(CSNK2A1):c.466G>T (p.Asp156Tyr)

dbSNP: rs1568512728
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GenomeConnect - Simons Searchlight RCV001265461 SCV001443596 likely pathogenic Okur-Chung neurodevelopmental syndrome 2018-07-23 no assertion criteria provided provider interpretation Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2018-07-23 and interpreted as Likely Pathogenic. Variant was initially reported on 2018-03-23 by GTR ID of laboratory name IWK Health Centre Department of Pathology and Laboratory Medicine . The reporting laboratory might also submit to ClinVar.

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