ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.2618_2619del (p.Val873fs)

dbSNP: rs2034464059
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Lab, CHRU Brest RCV001251663 SCV004697789 likely pathogenic KBG syndrome criteria provided, single submitter clinical testing
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001251663 SCV001427403 pathogenic KBG syndrome 2019-01-01 no assertion criteria provided clinical testing

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