ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.11495+19G>A

gnomAD frequency: 0.00097  dbSNP: rs370575091
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 RCV001513031 SCV001720563 benign Cohen syndrome 2024-01-31 criteria provided, single submitter clinical testing

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