ClinVar Miner

Submissions for variant NM_001369268.1(ACAN):c.2450T>C (p.Leu817Pro)

gnomAD frequency: 0.00054  dbSNP: rs200626682
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001795733 SCV002037069 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001795733 SCV002037973 likely benign not provided no assertion criteria provided clinical testing

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