ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.8315C>T (p.Thr2772Ile) (rs150807452)

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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 RCV000155405 SCV000205092 benign not specified 2012-05-07 criteria provided, single submitter clinical testing Thr2772Ile in Exon 42 of USH2A: This variant is not expected to have clinical si gnificance because it has been identified in 0.6% (23/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //; dbSNP rs150807452).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000724871 SCV000230604 uncertain significance not provided 2017-04-20 criteria provided, single submitter clinical testing
Invitae RCV000724871 SCV001041976 likely benign not provided 2020-12-04 criteria provided, single submitter clinical testing
GeneDx RCV000724871 SCV001792511 likely benign not provided 2021-01-21 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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