ClinVar Miner

Submissions for variant NM_001130144.3(LTBP3):c.2725+7G>A

gnomAD frequency: 0.00004  dbSNP: rs753230377
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002096729 SCV002323671 likely benign Brachyolmia-amelogenesis imperfecta syndrome 2022-10-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003403669 SCV004136922 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing LTBP3: BP4

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