ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.744+1G>T

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV003224939 SCV003920965 pathogenic KBG syndrome 2022-12-23 criteria provided, single submitter clinical testing

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