ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.1677T>C (p.Ile559=)

gnomAD frequency: 0.00001  dbSNP: rs1914251431
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001528852 SCV001741284 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001528852 SCV001970873 likely benign not provided no assertion criteria provided clinical testing

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