ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.6587G>C (p.Ser2196Thr) (rs79444516)

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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 RCV000041891 SCV000065587 benign not specified 2010-07-26 criteria provided, single submitter clinical testing Ser2196Thr in exon 34 of USH2A: This variant has now been identified in 4/191 (2 .1%) individuals tested in our laboratory none of whom had a pathogenic USH2A va riant and one case had only conductive hearing loss inconsistent with an USH2A e tiology. In addition, all 4 individuals were Black or Hispanic suggesting this v ariant is very common in this population.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000041891 SCV000229759 benign not specified 2015-02-06 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000041891 SCV000884843 benign not specified 2018-09-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000756879 SCV001146617 benign not provided 2018-11-12 criteria provided, single submitter clinical testing

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