ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.10062G>C (p.Val3354=) (rs200172376)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000152583 SCV000201846 benign not specified 2017-12-14 criteria provided, single submitter clinical testing Val3354Val in Exon 51 of USH2A: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 1% (348/30782) of So uth Asian chromosomes including 1 homozygote by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs200172376).
GeneDx RCV000838528 SCV000980398 likely benign not provided 2018-04-24 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.
Invitae RCV000838528 SCV001057077 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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