ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.11956A>G (p.Thr3986Ala) (rs727505322)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000156867 SCV000206588 uncertain significance not specified 2014-11-17 criteria provided, single submitter clinical testing The p.Thr3986Ala variant in USH2A has not been previously reported in individual s with hearing loss or in large population studies. Computational prediction too ls and conservation analyses do not provide strong support for or against an imp act to the protein. In summary, the clinical significance of the p.Thr3986Ala va riant is uncertain.
Counsyl RCV000666306 SCV000790576 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-03-29 criteria provided, single submitter clinical testing

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