ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.6106G>A (p.Asp2036Asn) (rs201636725)

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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 RCV000435253 SCV000510923 likely benign not provided 2017-01-13 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Ambry Genetics RCV000717467 SCV000848319 benign Autism spectrum disorder 2016-11-23 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Invitae RCV001088930 SCV001006072 benign KBG syndrome 2019-12-31 criteria provided, single submitter clinical testing

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