ClinVar Miner

Submissions for variant NM_001130144.3(LTBP3):c.2107+13C>T

gnomAD frequency: 0.00263  dbSNP: rs201699516
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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 RCV002207014 SCV002364013 benign Brachyolmia-amelogenesis imperfecta syndrome 2024-01-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498217 SCV002806564 likely benign Brachyolmia-amelogenesis imperfecta syndrome; Geleophysic dysplasia 3 2021-08-23 criteria provided, single submitter clinical testing

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