ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.6270A>G (p.Leu2090=) (rs56245532)

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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 RCV000041882 SCV000065578 benign not specified 2012-02-28 criteria provided, single submitter clinical testing Leu2090Leu in exon 32 of USH2A: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located near a splice junction, has been identified in 0.4% (31/7020) of European American ch romosomes and 0.2% (6/3738) African American chromosomes by the NHLBI Exome Sequ encing Project (; rs56245532), and is reported a s benign in one publication (McGee 2010).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000041882 SCV000229587 benign not specified 2015-02-16 criteria provided, single submitter clinical testing
Invitae RCV000885858 SCV001029332 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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