ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.13564C>T (p.Leu4522Phe)

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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 Prof. Karen Avraham, Tel Aviv University RCV004585140 SCV005073820 likely pathogenic Usher syndrome type 2A 2024-06-10 criteria provided, single submitter research Homozigosity of a very rare variant in a known deafness gene predicted deleterious by many prediction programs

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