ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.4833T>C (p.Ile1611=)

gnomAD frequency: 0.00001  dbSNP: rs1380489766
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001449377 SCV001652492 likely benign Cohen syndrome 2024-05-09 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004584909 SCV005075478 likely benign not provided 2024-06-01 criteria provided, single submitter clinical testing VPS13B: BP4, BP7

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