ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.6919C>T (p.Pro2307Ser) (rs575642464)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000625153 SCV000743899 likely benign KBG syndrome 2017-01-25 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000625153 SCV000745327 likely benign KBG syndrome 2016-02-12 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000626913 SCV000747616 uncertain significance Global developmental delay; Seizures; Behavioral abnormality; Macrocephalus; Hand tremor 2017-01-01 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710575 SCV000840817 likely benign not provided 2018-04-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV000719886 SCV000850757 likely benign Autism spectrum disorder 2016-11-03 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence,In silico models in agreement (benign),Subpopulation frequency in support of benign classification

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