ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.11094_11097dup (p.Arg3700fs)

gnomAD frequency: 0.00001  dbSNP: rs386834059
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000050046 SCV000487072 likely pathogenic Cohen syndrome 2016-10-04 criteria provided, single submitter clinical testing
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000050046 SCV000082455 probable-pathogenic Cohen syndrome no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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