ClinVar Miner

Submissions for variant NM_000278.5(PAX2):c.357G>T (p.Leu119=)

gnomAD frequency: 0.00009  dbSNP: rs543423053
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000893073 SCV001148064 uncertain significance not provided 2016-07-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002065590 SCV002478525 likely benign Renal coloboma syndrome; Focal segmental glomerulosclerosis 7 2023-12-26 criteria provided, single submitter clinical testing

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