ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.6882_6883del (p.Glu2295fs)

dbSNP: rs2033996047
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli RCV002287484 SCV002577678 pathogenic KBG syndrome 2022-10-04 criteria provided, single submitter clinical testing PVS1;PM2_supporting;PM6;PP5
Diagnostic Laboratory, Strasbourg University Hospital RCV001249515 SCV001423505 pathogenic Intellectual disability 2017-12-01 no assertion criteria provided clinical testing

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