ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.6486G>A (p.Gln2162=) (rs397518025)

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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 RCV000041887 SCV000065583 likely benign not specified 2011-01-07 criteria provided, single submitter clinical testing Gln2162Gln in exon 34 of USH2A: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue. This variant occurs in the first base of the exon, which is part of the splice consensus sequence; h owever, computational analyses do not predict an alteration of splicing function .
Counsyl RCV000664951 SCV000788994 likely benign Usher syndrome, type 2A; Retinitis pigmentosa 39 2016-12-23 criteria provided, single submitter clinical testing

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