ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.8499T>C (p.Ser2833=) (rs753719500)

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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 RCV000222061 SCV000271178 likely benign not specified 2016-04-07 criteria provided, single submitter clinical testing p.Ser2833Ser in exon 42 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. It has been identified in 0.1% (11/16502) of South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exa c.broadinstitute.org; dbSNP rs753719500).
Counsyl RCV000667785 SCV000792289 likely benign Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-06-13 criteria provided, single submitter clinical testing

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