ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.11411dup (p.Leu3805fs)

dbSNP: rs1588810676
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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 RCV000790905 SCV000930152 pathogenic Cohen syndrome 2019-04-27 criteria provided, single submitter clinical testing

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