ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.9307A>G (p.Ile3103Val) (rs143352618)

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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 RCV000152585 SCV000201851 likely benign not specified 2013-09-12 criteria provided, single submitter clinical testing Ile3103Val in Exon 47 of USH2A: This variant is not expected to have clinical s ignificance because the isoleucine (Ile) residue at position 3103 is not conserv ed through species with mouse lemur, bushbaby, mouse and rat having a valine (Va l). In addition, it has been identified in 0.7% (6/8600) of European American c hromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/E VS/; dbSNP rs143352618).
Counsyl RCV000673073 SCV000798241 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2018-03-06 criteria provided, single submitter clinical testing

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