ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.16129G>T (p.Gly5377Ter) (rs1561790371)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital RCV000770810 SCV000902296 likely pathogenic Usher syndrome, type 2C 2019-02-26 no assertion criteria provided case-control

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