ClinVar Miner

Submissions for variant NM_000278.5(PAX2):c.798C>T (p.Asn266=)

gnomAD frequency: 0.12916  dbSNP: rs1800897
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000242495 SCV000309907 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001510482 SCV001717525 benign Renal coloboma syndrome; Focal segmental glomerulosclerosis 7 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV000144382 SCV001860485 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001510482 SCV002798777 benign Renal coloboma syndrome; Focal segmental glomerulosclerosis 7 2021-12-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000144382 SCV005320048 benign not provided criteria provided, single submitter not provided
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000144382 SCV000189506 not provided not provided no assertion provided not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000242495 SCV001926612 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000242495 SCV001952533 benign not specified no assertion criteria provided clinical testing

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