ClinVar Miner

Submissions for variant NM_001130144.3(LTBP3):c.76CTG[9] (p.Leu35del)

dbSNP: rs71036212
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000639560 SCV000761136 likely benign Brachyolmia-amelogenesis imperfecta syndrome 2024-01-22 criteria provided, single submitter clinical testing
GeneDx RCV001573488 SCV001882802 benign not provided 2021-06-09 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573488 SCV001799437 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001573488 SCV001929358 likely benign not provided no assertion criteria provided clinical testing
GenomeConnect, ClinGen RCV001824849 SCV002075267 not provided Brachyolmia-amelogenesis imperfecta syndrome; Geleophysic dysplasia 3 no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 02-29-2020 by Lab or GTR ID 500031. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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