ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.10426G>A (p.Gly3476Arg) (rs1060499795)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000454263 SCV001527130 uncertain significance Usher syndrome, type 2C 2018-06-22 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Hereditary Research Laboratory, Bethlehem University RCV000454263 SCV000538092 pathogenic Usher syndrome, type 2C 2016-06-04 no assertion criteria provided research congenital, moderate to severe

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