ClinVar Miner

Submissions for variant NM_000278.5(PAX2):c.1021+141C>A

gnomAD frequency: 0.00001  dbSNP: rs530216201
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001510541 SCV001717607 benign Renal coloboma syndrome; Focal segmental glomerulosclerosis 7 2024-01-22 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001796532 SCV002034037 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001796532 SCV002034405 benign not specified no assertion criteria provided clinical testing

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