ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.9915G>C (p.Glu3305Asp) (rs145278250)

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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 RCV000041961 SCV000065657 benign not specified 2017-09-04 criteria provided, single submitter clinical testing p.Glu3305Asp in exon 50 of USH2A: This variant is not expected to have clinical significance because it is has been identified in 1.57% (297/18854) of East Asia n chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadins; dbSNP rs145278250).
Invitae RCV000910459 SCV001055326 benign not provided 2020-12-04 criteria provided, single submitter clinical testing
GeneDx RCV000910459 SCV001810742 likely benign not provided 2021-02-01 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23591405, 24938718)
Natera, Inc. RCV001276953 SCV001463646 benign Usher syndrome, type 2A 2020-01-17 no assertion criteria provided clinical testing

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