ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.14454G>A (p.Pro4818=) (rs137902779)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756885 SCV000884853 benign not provided 2017-12-29 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000154585 SCV000204258 benign not specified 2010-07-26 criteria provided, single submitter clinical testing p.Pro4818Pro in Exon 66 of USH2A: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence, and has been identified in 1.1% (42/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS; dbSNP rs137902779).

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