ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.2828del (p.Ala943fs)

dbSNP: rs1554765140
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669974 SCV000794777 likely pathogenic Cohen syndrome 2017-10-16 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV000669974 SCV001440230 likely pathogenic Cohen syndrome 2019-01-01 criteria provided, single submitter clinical testing This variant was identified as compound heterozygous.

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