ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.2414G>C (p.Gly805Ala) (rs587783023)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665419 SCV000789539 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-02-09 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000665419 SCV000896273 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2018-10-31 criteria provided, single submitter clinical testing
Molecular Diagnostics Laboratory,Seoul National University Hospital RCV000144475 SCV000189610 uncertain significance Leber congenital amaurosis 2014-09-18 no assertion criteria provided clinical testing

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