ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.1623G>A (p.Glu541=) (rs146805130)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000214430 SCV000271162 likely benign not specified 2012-04-30 criteria provided, single submitter clinical testing Glu541Glu in Exon 09 of USH2A: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 1/7020 European Ameri can chromosomes from a broad population by the NHLBI Exome Sequencing Project (h ttp://evs.gs.washington.edu/EVS; dbSNP rs146805130).
Counsyl RCV000664772 SCV000788783 likely benign Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-01-05 criteria provided, single submitter clinical testing

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