ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.4356T>A (p.Cys1452Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV004596045 SCV005091047 pathogenic Usher syndrome type 2A 2023-11-28 criteria provided, single submitter clinical testing PVS1, PM2, PP4 - The variant is expected to result in an absent or disrupted protein product. Low frequency in gnomAD population databases.

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