ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.14511C>T (p.Ile4837=) (rs139847770)

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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 RCV000215547 SCV000271159 likely benign not specified 2015-04-16 criteria provided, single submitter clinical testing p.Ile4837Ile in Exon 66 of USH2A: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. This variant has been identified in 2/6673 8 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.br oadinstitute.org; dbSNP rs139847770).
Counsyl RCV000665034 SCV000789090 likely benign Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-01-19 criteria provided, single submitter clinical testing

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