ClinVar Miner

Submissions for variant NM_024915.4(GRHL2):c.20+133del

dbSNP: rs1554579819
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Hardcastle Lab, UCL Institute of Ophthalmology RCV000656694 SCV000681416 likely pathogenic Corneal dystrophy 2018-02-02 no assertion criteria provided research
OMIM RCV000656696 SCV000778826 pathogenic Corneal dystrophy, posterior polymorphous, 4 2022-01-12 no assertion criteria provided literature only

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