ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.12817T>C (p.Tyr4273His) (rs79654794)

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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 RCV000155404 SCV000205091 benign not specified 2012-05-07 criteria provided, single submitter clinical testing Tyr4273His in Exon 63 of USH2A: This variant is not expected to have clinical si gnificance because it has been identified in 1.3% (50/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //; dbSNP rs79654794).
Athena Diagnostics Inc RCV000714158 SCV000844841 likely benign not provided 2018-05-24 criteria provided, single submitter clinical testing
GeneDx RCV000714158 SCV000970671 likely benign not provided 2020-08-02 criteria provided, single submitter clinical testing
Invitae RCV000714158 SCV001038582 benign not provided 2020-12-02 criteria provided, single submitter clinical testing

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