ClinVar Miner

Submissions for variant NM_001130144.3(LTBP3):c.1064-10C>T

gnomAD frequency: 0.00079  dbSNP: rs202221935
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002064862 SCV002429572 benign Brachyolmia-amelogenesis imperfecta syndrome 2024-01-20 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000876668 SCV001926260 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000876668 SCV001969080 likely benign not provided no assertion criteria provided clinical testing

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