ClinVar Miner

Submissions for variant NM_000278.5(PAX2):c.360C>T (p.Ala120=)

gnomAD frequency: 0.00270  dbSNP: rs41291450
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000080358 SCV000112254 uncertain significance not provided 2013-07-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001085904 SCV000763300 benign Renal coloboma syndrome; Focal segmental glomerulosclerosis 7 2024-01-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000080358 SCV001334967 benign not provided 2023-04-01 criteria provided, single submitter clinical testing PAX2: BP4, BP7, BS1, BS2
GeneDx RCV000080358 SCV001938765 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001699201 SCV001926231 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000080358 SCV001928686 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000080358 SCV001974112 likely benign not provided no assertion criteria provided clinical testing

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