ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.9688G>A (p.Ala3230Thr) (rs528342000)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727102 SCV000705699 uncertain significance not provided 2017-02-01 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000156547 SCV000206266 likely benign not specified 2014-05-29 criteria provided, single submitter clinical testing Ala3230Thr in exon 49 of USH2A: This variant is not expected to have clinical si gnificance due to a lack of conservation across species, including mammals. Of n ote, three mammals (sheep, domestic gaot, and Tibetan antelope) have a Thr (Thre onine) at this position. In addition, computational prediction tools suggest thi s variant may not impact the protein.

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