ClinVar Miner

Submissions for variant NM_001130144.3(LTBP3):c.39T>G (p.Pro13=)

dbSNP: rs1590792358
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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 RCV000911141 SCV001056198 likely benign Brachyolmia-amelogenesis imperfecta syndrome 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003311912 SCV004010082 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing LTBP3: BP4, BP7

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