ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.1581C>T (p.Cys527=) (rs140331348)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000761708 SCV000891891 uncertain significance not provided 2018-09-30 criteria provided, single submitter clinical testing
GeneDx RCV000152635 SCV000725093 likely benign not specified 2017-11-30 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000152635 SCV000201957 likely benign not specified 2012-04-30 criteria provided, single submitter clinical testing Cys527Cys in Exon 09 of USH2A: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 1/3738 African Americ an chromosomes from a broad population by the NHLBI Exome Sequencing Project (ht tp://evs.gs.washington.edu/EVS; dbSNP rs140331348).

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