ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.1179A>G (p.Gln393=) (rs148447919)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041704 SCV000065400 likely benign not specified 2016-02-25 criteria provided, single submitter clinical testing p.Gln393Gln in exon 7 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 0.2% (102/58878) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broa dinstitute.org; dbSNP rs148447919).
Illumina Clinical Services Laboratory,Illumina RCV000308355 SCV000354172 uncertain significance Retinitis pigmentosa-deafness syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000360778 SCV000354173 uncertain significance Retinitis Pigmentosa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000041704 SCV000729461 likely benign not specified 2018-03-12 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000041704 SCV000857880 likely benign not specified 2018-06-14 criteria provided, single submitter clinical testing

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