ClinVar Miner

Submissions for variant NM_016516.3(VPS54):c.2625+9T>A

gnomAD frequency: 0.00459  dbSNP: rs147421356
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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 RCV001579416 SCV005256982 likely benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579416 SCV001807154 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001579416 SCV001967837 likely benign not provided no assertion criteria provided clinical testing

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