ClinVar Miner

Submissions for variant NM_000278.5(PAX2):c.477C>T (p.Thr159=)

gnomAD frequency: 0.00001  dbSNP: rs201775091
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002073424 SCV002390602 likely benign Renal coloboma syndrome; Focal segmental glomerulosclerosis 7 2023-10-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002073424 SCV002806411 likely benign Renal coloboma syndrome; Focal segmental glomerulosclerosis 7 2021-11-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001730355 SCV004127214 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing PAX2: BP4, BP7
Clinical Genetics, Academic Medical Center RCV001730355 SCV001978893 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001730355 SCV001980318 likely benign not provided no assertion criteria provided clinical testing

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