ClinVar Miner

Submissions for variant NM_001368894.2(PAX6):c.308A>C (p.Gln103Pro)

dbSNP: rs1167005463
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
Institute of Human Genetics, University of Goettingen RCV000768370 SCV000897648 uncertain significance 11p partial monosomy syndrome 2019-04-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000994596 SCV001148221 uncertain significance not provided 2019-01-01 criteria provided, single submitter clinical testing

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