ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.5088C>G (p.Asp1696Glu) (rs146205997)

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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 RCV000514936 SCV000610822 likely benign not provided 2017-06-29 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000514936 SCV000840800 benign not provided 2018-02-20 criteria provided, single submitter clinical testing
Invitae RCV001078825 SCV001018787 likely benign KBG syndrome 2019-12-31 criteria provided, single submitter clinical testing

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