ClinVar Miner

Submissions for variant NM_018699.4(PRDM5):c.93+2T>C

dbSNP: rs1579259095
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV000024111 SCV004805084 pathogenic Brittle cornea syndrome 2 2024-03-17 criteria provided, single submitter research
OMIM RCV000024111 SCV000045402 pathogenic Brittle cornea syndrome 2 2012-02-01 no assertion criteria provided literature only

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