ClinVar Miner

Submissions for variant NM_000278.5(PAX2):c.212+12G>A

gnomAD frequency: 0.00048  dbSNP: rs546505132
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002087732 SCV002323703 benign Renal coloboma syndrome; Focal segmental glomerulosclerosis 7 2022-09-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002087732 SCV002802598 likely benign Renal coloboma syndrome; Focal segmental glomerulosclerosis 7 2022-04-22 criteria provided, single submitter clinical testing

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