ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.4837A>G (p.Ile1613Val) (rs397518017)

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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 RCV000041849 SCV000065545 likely benign not specified 2013-03-11 criteria provided, single submitter clinical testing The Ile1613Val variant in USH2A: This variant is not expected to have clinical s ignificance due to lack of conservation across species, including mammals. This variant is present several species, including mouse. In addition, computational analyses (PolyPhen2, SIFT, AlignGVGD) do not suggest a high likelihood of impact to the protein.
Counsyl RCV000673507 SCV000798716 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2018-03-20 criteria provided, single submitter clinical testing

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