ClinVar Miner

Submissions for variant NM_001368894.2(PAX6):c.501C>T (p.Thr167=)

gnomAD frequency: 0.00001  dbSNP: rs201200280
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001422872 SCV001625431 likely benign Aniridia 1; Irido-corneo-trabecular dysgenesis 2024-10-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003394044 SCV004129967 likely benign not provided 2023-06-01 criteria provided, single submitter clinical testing PAX6: BP4, BP7

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