ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.10922G>A (p.Arg3641Lys) (rs397517969)

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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 RCV000041683 SCV000065379 likely benign not specified 2012-07-26 criteria provided, single submitter clinical testing Arg3641Lys in Exon 55 of USH2A: This variant is not expected to have clinical si gnificance because all computational analyses (biochemical amino acid properties , conservation, AlignGVGD, PolyPhen2, and SIFT) predict no impact to the protein , including the fact that opossum has a lysine (Lys) at this position despite hi gh nearby amino acid conservation.
Counsyl RCV000666661 SCV000790990 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-04-18 criteria provided, single submitter clinical testing

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