ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.1763C>T (p.Ser588Leu) (rs202142344)

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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 RCV000718681 SCV000849545 likely benign Autism spectrum disorder 2020-09-17 criteria provided, single submitter clinical testing In silico models in agreement (benign);Subpopulation frequency in support of benign classification
New York Genome Center RCV001281509 SCV001468818 uncertain significance Intellectual disability 2019-06-21 criteria provided, single submitter clinical testing
GeneDx RCV001556943 SCV001778617 likely benign not provided 2021-05-10 criteria provided, single submitter clinical testing

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