ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.3941T>A (p.Leu1314Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Goettingen RCV003325930 SCV004032058 likely pathogenic Usher syndrome type 2C 2023-09-06 no assertion criteria provided clinical testing

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