ClinVar Miner

Submissions for variant NM_001039591.3(USP9X):c.6084C>T (p.Pro2028=)

gnomAD frequency: 0.00282  dbSNP: rs146661515
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000425107 SCV000511383 likely benign not provided 2017-02-15 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV000425107 SCV001061326 benign not provided 2023-12-30 criteria provided, single submitter clinical testing
GeneDx RCV000425107 SCV001788190 likely benign not provided 2020-11-24 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000425107 SCV001800216 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000425107 SCV001970194 likely benign not provided no assertion criteria provided clinical testing

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