ClinVar Miner

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

gnomAD frequency: 0.00001  dbSNP: rs727505322
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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, Mass General Brigham 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
Genome-Nilou Lab RCV003453203 SCV004182052 uncertain significance Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001278867 SCV004182053 uncertain significance Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001278867 SCV001465913 uncertain significance Usher syndrome type 2A 2020-08-14 no assertion criteria provided clinical testing

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