ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.7825C>T (p.Gln2609Ter)

dbSNP: rs797044900
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000190724 SCV000244165 pathogenic Inborn genetic diseases 2013-02-06 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001781565 SCV002016381 pathogenic KBG syndrome 2020-03-20 criteria provided, single submitter clinical testing
Genome Medicine, Institute for Basic Research in Developmental Disabilities RCV001781565 SCV002562768 pathogenic KBG syndrome criteria provided, single submitter clinical testing KBG syndrome

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