ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1614C>T (p.Asn538=) (rs111033193)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036452 SCV000060107 likely benign not specified 2008-03-01 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725035 SCV000333398 uncertain significance not provided 2015-07-23 criteria provided, single submitter clinical testing
GeneDx RCV000036452 SCV000730597 likely benign not specified 2018-02-08 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Counsyl RCV000671670 SCV000796666 uncertain significance Pendred syndrome 2017-12-28 criteria provided, single submitter clinical testing
Invitae RCV000725035 SCV001028059 likely benign not provided 2019-02-21 criteria provided, single submitter clinical testing

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