ClinVar Miner

Submissions for variant NM_001291867.2(NHS):c.211C>T (p.Pro71Ser) (rs398124605)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000173025 SCV000114844 benign not specified 2015-02-13 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000173025 SCV000152049 benign not specified 2015-04-23 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224466 SCV000281555 likely benign not provided 2014-12-09 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001282895 SCV000604543 benign none provided 2020-02-14 criteria provided, single submitter clinical testing
Invitae RCV001078975 SCV000636701 benign Nance-Horan syndrome 2020-11-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717108 SCV000847954 benign History of neurodevelopmental disorder 2019-09-13 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;In silico models in agreement (benign)

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