ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.6140C>G (p.Ala2047Gly) (rs199691161)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000710565 SCV000840807 likely benign not provided 2018-01-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV000719451 SCV000850318 likely benign Autism spectrum disorder 2016-11-09 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Subpopulation frequency in support of benign classification,In silico models in agreement (benign)
Invitae RCV000710565 SCV001097551 likely benign not provided 2019-02-28 criteria provided, single submitter clinical testing

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