ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.3097A>T (p.Ser1033Cys) (rs201929972)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital RCV000736054 SCV000864266 likely benign not specified 2017-04-26 criteria provided, single submitter clinical testing BP1, BP4; This variant is a missense alteration in a gene for which primarily truncating variants are known to cause disease, and is predicted to be tolerated by multiple functional prediction tools.

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