ClinVar Miner

Submissions for variant NM_003737.4(DCHS1):c.1546G>A (p.Ala516Thr) (rs142972252)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000512954 SCV000608578 uncertain significance not provided 2017-06-30 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000512954 SCV000610389 uncertain significance not provided 2017-05-08 criteria provided, single submitter clinical testing
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital RCV000736107 SCV000864379 likely benign not specified 2017-06-20 criteria provided, single submitter clinical testing BS2, BP4; This alteration was seen in a healthy adult where full penetrance of the disorder is expected at an early age, and is predicted to be tolerated by multiple functional prediction tools.

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