ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.4586A>T (p.Lys1529Ile) (rs41303255)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041846 SCV000065542 benign not specified 2014-08-11 criteria provided, single submitter clinical testing Lys1529Ile in Exon 21A of USH2A: This variant is not expected to have clinical s ignificance because it has been identified in 0.7% (30/4406) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs41303255).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000041846 SCV000340165 likely benign not specified 2016-03-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000270447 SCV000354094 uncertain significance Retinitis Pigmentosa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000324312 SCV000354095 uncertain significance Retinitis pigmentosa-deafness syndrome 2016-06-14 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000513149 SCV000608527 uncertain significance not provided 2017-05-01 criteria provided, single submitter clinical testing
Invitae RCV000513149 SCV001062438 likely benign not provided 2019-02-19 criteria provided, single submitter clinical testing

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