ClinVar Miner

Submissions for variant NM_001130144.3(LTBP3):c.3629-2A>G

dbSNP: rs2496113296
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Reference Center For Rare Oral And Dental Diseases, Crmr O-rares, Hôpitaux Universitaires De Strasbourg RCV003154868 SCV003843877 likely pathogenic Brachyolmia-amelogenesis imperfecta syndrome 2023-03-01 criteria provided, single submitter clinical testing

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