ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.13232-1G>A

gnomAD frequency: 0.00001  dbSNP: rs764583867
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals RCV001002725 SCV001156419 pathogenic Usher syndrome type 2C 2019-02-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489510 SCV002797430 likely pathogenic Usher syndrome type 2C; Febrile seizures, familial, 4 2021-07-02 criteria provided, single submitter clinical testing

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