ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.7365del (p.Cys2455fs)

dbSNP: rs1811766430
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centogene AG - the Rare Disease Company RCV001251151 SCV001426550 likely pathogenic Cohen syndrome criteria provided, single submitter clinical testing
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV001251151 SCV005420825 likely pathogenic Cohen syndrome 2024-10-04 criteria provided, single submitter research PVS1,PM2
Palindrome, Gene Kavoshgaran Aria RCV001251151 SCV005689452 pathogenic Cohen syndrome 2024-12-17 criteria provided, single submitter clinical testing

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