ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.6565A>G (p.Ile2189Val) (rs542406401)

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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 RCV000216840 SCV000271174 likely benign not specified 2015-07-05 criteria provided, single submitter clinical testing p.Ile2189Val in exon 34 of USH2A: This variant is not expected to have clinical significance because the isoleucine (Ile) residue at position 2189 is not conser ved through species, with >10 mammals having a valine (Val) at this position. It has been identified in 15/16504 South Asian chromosomes by the Exome Aggregatio n Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs542406401).
Counsyl RCV000667038 SCV000791427 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-05-10 criteria provided, single submitter clinical testing

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