ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.1558del (p.Ala520fs)

dbSNP: rs2151763801
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV002077364 SCV002320729 pathogenic KBG syndrome 2022-03-18 criteria provided, single submitter clinical testing

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