ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.10458G>A (p.Trp3486Ter)

dbSNP: rs1580905929
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center of Genomic medicine, Geneva, University Hospital of Geneva RCV000857228 SCV000999814 pathogenic Usher syndrome type 2 2018-08-06 criteria provided, single submitter clinical testing This variant was identified in combination with a second variant (probably in trans, but this could not be confirmed) in the same gene (ADGRV1) in a patient with Usher syndrome
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268686 SCV001447803 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing

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