ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.1663C>G (p.Leu555Val) (rs35818432)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041795 SCV000065491 likely benign not specified 2017-05-02 criteria provided, single submitter clinical testing p.Leu555Val in exon 10 of USH2A: This variant is not expected to have clinical s ignificance because it has been identified 0.2% (24/10136) of Ashkenazi Jewish c hromosomes and in 0.2% (212/126366) of European chromosomes including 1 homozygo te by the Genome Aggregation Database (gnomAD,; dbSNP rs35818432). It has been reported in cis with another pathogenic variant in USH2A (Jaijo 2009, Vozzi 2011). A study has shown that the variant does not i mpact protein function (Bhattacharya 2004).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000041795 SCV000341464 likely benign not specified 2016-05-10 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000415970 SCV000493631 uncertain significance not provided 2018-05-01 criteria provided, single submitter clinical testing
Sharon lab,Hadassah-Hebrew University Medical Center RCV001003284 SCV001161367 likely pathogenic Retinitis pigmentosa 2019-06-23 no assertion criteria provided research

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