ClinVar Miner

Submissions for variant NM_005807.6(PRG4):c.1737T>C (p.Thr579=)

gnomAD frequency: 0.02340  dbSNP: rs778925933
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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 RCV001727775 SCV005258733 likely benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000605341 SCV000733962 benign Camptodactyly-arthropathy-coxa vara-pericarditis syndrome no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001727775 SCV001973217 likely benign not provided no assertion criteria provided clinical testing

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