ClinVar Miner

Submissions for variant NM_016516.3(VPS54):c.2228+14T>A

gnomAD frequency: 0.01801  dbSNP: rs190823081
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breakthrough Genomics, Breakthrough Genomics RCV001580032 SCV005244298 benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001580032 SCV001809434 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001727913 SCV001969972 benign not specified no assertion criteria provided clinical testing

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