ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.2139T>G (p.Ile713Met) (rs143708308)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036475 SCV000060130 benign not specified 2012-05-07 criteria provided, single submitter clinical testing Ile713Met in Exon 19 of SLC26A4: This variant is not expected to have clinical s ignificance because it has been identified in 0.7% (27/3736) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs143708308).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000036475 SCV000341821 likely benign not specified 2016-05-31 criteria provided, single submitter clinical testing
GeneDx RCV000036475 SCV000730598 likely benign not specified 2017-06-22 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 RCV000671686 SCV000796686 likely benign Pendred syndrome 2017-12-28 criteria provided, single submitter clinical testing
Invitae RCV000947056 SCV001093221 benign not provided 2020-12-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV000671686 SCV001463982 benign Pendred syndrome 2020-04-16 no assertion criteria provided clinical testing

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