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

Total submissions: 4

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