ClinVar Miner

Submissions for variant NM_001130144.3(LTBP3):c.1345+7C>T

gnomAD frequency: 0.00045  dbSNP: rs72939112
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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 RCV000946347 SCV001092475 likely benign Brachyolmia-amelogenesis imperfecta syndrome 2023-12-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004704363 SCV005213000 likely benign not provided criteria provided, single submitter not provided

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