ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.7160T>C (p.Met2387Thr) (rs115015305)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041904 SCV000065600 benign not specified 2012-04-27 criteria provided, single submitter clinical testing Met2387Thr in exon 38 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: //evs.gs.washington.edu/EVS/; dbSNP rs115015305).
Invitae RCV000972668 SCV001120391 benign not provided 2020-12-08 criteria provided, single submitter clinical testing
GeneDx RCV000972668 SCV001844683 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274244 SCV001458124 benign Usher syndrome, type 2A 2020-09-16 no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV000041904 SCV001923453 benign not specified no assertion criteria provided clinical testing

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