ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.6952G>T (p.Val2318Phe)

dbSNP: rs1338945655
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000626262 SCV000746915 uncertain significance Usher syndrome type 2C 2019-01-01 criteria provided, single submitter clinical testing

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