ClinVar Miner

Submissions for variant NM_003990.5(PAX2):c.978A>C (p.Pro326=) (rs1800898)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000144384 SCV000189508 not provided not provided no assertion provided not provided
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000612081 SCV000732904 benign Renal coloboma syndrome no assertion criteria provided clinical testing
PreventionGenetics RCV000247276 SCV000309908 benign not specified criteria provided, single submitter clinical testing

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