ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.2092_2096del (p.Glu698fs)

dbSNP: rs2034502951
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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 Leipzig Medical Center RCV001253544 SCV001429312 likely pathogenic KBG syndrome 2019-03-04 criteria provided, single submitter clinical testing

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