ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.3267_3268insTTCT (p.Leu1090fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Medical Genetics, School of Advanced Technologies in Medicine, Golestan University of Medical Sciences RCV004697310 SCV004565393 likely pathogenic Usher syndrome type 2A 2022-06-15 no assertion criteria provided clinical testing

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