ClinVar Miner

Submissions for variant NM_016516.3(VPS54):c.636T>C (p.Tyr212=)

gnomAD frequency: 0.11483  dbSNP: rs17028275
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 RCV004709118 SCV005244301 benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001580025 SCV001809419 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001580025 SCV001974392 benign not specified no assertion criteria provided clinical testing

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