ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.6046+18T>G

gnomAD frequency: 0.00006  dbSNP: rs1009720045
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002219669 SCV002378351 likely benign Cohen syndrome 2023-11-18 criteria provided, single submitter clinical testing

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