ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.7060C>T (p.Arg2354Cys) (rs111033508)

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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 RCV000041901 SCV000065597 likely benign not specified 2017-01-25 criteria provided, single submitter clinical testing p.Arg2354Cys in exon 37 of USH2A: This variant is not expected to have clinical significance because it has been identified in 0.4% (45/10402) of African chromo somes by the Exome Aggregation Consortium (ExAC,; dbSNP rs111033508).
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000041901 SCV000605540 uncertain significance not specified 2016-09-14 criteria provided, single submitter clinical testing
Invitae RCV000893876 SCV001037837 likely benign not provided 2020-12-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001271990 SCV001453618 uncertain significance Usher syndrome, type 2A 2019-11-07 no assertion criteria provided clinical testing

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