ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.4997dup (p.Asn1666fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Goettingen RCV004544233 SCV005040949 likely pathogenic KBG syndrome 2024-03-11 criteria provided, single submitter clinical testing

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