ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.9110G>A (p.Arg3037His) (rs533700989)

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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 RCV000218151 SCV000269952 benign not specified 2015-02-20 criteria provided, single submitter clinical testing p.Arg3037His in exon 46 of USH2A: This variant is not expected to have clinical significance because it has been identified in 0.7% (109/16492) of South Asian c hromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute .org; dbSNP rs533700989), and due to a lack of conservation across species, incl uding mammals. Of note, 10 have a histidine (His) at this position despite high nearby amino acid conservation.
GeneDx RCV000766324 SCV000581975 likely benign not provided 2021-01-19 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 25275298)
Invitae RCV000766324 SCV001064080 benign not provided 2020-12-04 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001276961 SCV001737336 uncertain significance Usher syndrome, type 2A 2021-06-10 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276961 SCV001463654 likely benign Usher syndrome, type 2A 2020-06-03 no assertion criteria provided clinical testing

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