ClinVar Miner

Submissions for variant NM_003990.5(PAX2):c.775C>T (p.Gln259Ter) (rs75399846)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000144380 SCV000189504 not provided not provided no assertion provided not provided
OMIM RCV000014815 SCV000035070 pathogenic Renal coloboma syndrome 2012-03-01 no assertion criteria provided literature only

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