ClinVar Miner

Submissions for variant NM_032898.5(CEP19):c.-11T>C

gnomAD frequency: 0.00013  dbSNP: rs147719730
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 RCV000939456 SCV001085300 benign not provided 2024-01-23 criteria provided, single submitter clinical testing
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV001731984 SCV001984596 benign Obesity due to CEP19 deficiency 2020-01-06 criteria provided, single submitter clinical testing

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