ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.6745C>T (p.Arg2249Cys) (rs202081612)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514386 SCV000609549 likely benign not provided 2017-08-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718237 SCV000849099 benign Autism spectrum disorder 2018-05-18 criteria provided, single submitter clinical testing Does not segregate with disease in family study (genes with incomplete penetrance);In silico models in agreement (benign);Subpopulation frequency in support of benign classification
Invitae RCV001082874 SCV001015525 likely benign KBG syndrome 2019-12-31 criteria provided, single submitter clinical testing

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