ClinVar Miner

Submissions for variant NM_001368894.2(PAX6):c.141+55G>A

gnomAD frequency: 0.00101  dbSNP: rs571151963
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
CeGaT Center for Human Genetics Tuebingen RCV001354774 SCV004129969 benign not provided 2022-06-01 criteria provided, single submitter clinical testing PAX6: BS1, BS2
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001354774 SCV001549469 uncertain significance not provided no assertion criteria provided clinical testing

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