ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.1590A>T (p.Thr530=) (rs144343161)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726814 SCV000703240 uncertain significance not provided 2016-11-21 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041793 SCV000065489 likely benign not specified 2010-09-16 criteria provided, single submitter clinical testing Thr530Thr in exon 9 of USH2A: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located near a splice junction.

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