ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1826T>G (p.Val609Gly) (rs17154335)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036461 SCV000060116 benign not specified 2008-04-23 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000036461 SCV000340569 benign not specified 2016-04-07 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000317486 SCV000466101 likely benign Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000374325 SCV000466102 likely benign Pendred syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000036461 SCV000514667 likely benign not specified 2017-11-02 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.
Athena Diagnostics Inc RCV000713334 SCV000843931 benign not provided 2018-05-23 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000713334 SCV000884520 benign not provided 2017-09-22 criteria provided, single submitter clinical testing

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