ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.15C>A (p.Gly5=) (rs7811324)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036450 SCV000060105 benign not specified 2012-08-24 criteria provided, single submitter clinical testing Gly5Gly in exon 2 of SLC26A4: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, has been identified in 1.4% (54/3922) of African American chromosomes from a broad population by the NHLBI Exome sequencing proje ct (http://evs.gs.washington.edu/EVS/).
GeneDx RCV000036450 SCV000721595 likely benign not specified 2017-07-31 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 RCV000674869 SCV000800273 likely benign Pendred syndrome 2018-05-29 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000036450 SCV000859388 benign not specified 2018-02-13 criteria provided, single submitter clinical testing

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