ClinVar Miner

Submissions for variant NM_001042545.2(LTBP4):c.3221C>T (p.Thr1074Met)

gnomAD frequency: 0.39072  dbSNP: rs10880
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000155550 SCV000205251 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Thr1141Met in exon 26 of LTBP4: This variant is not expected to have clinical si gnificance because it has been identified in 42.4% (1675/3950) of African Americ an chromosomes from a broad population by the NHLBI Exome Sequencing Project (ht tp://evs.gs.washington.edu/EVS; dbSNP rs10880).
GeneDx RCV000155550 SCV000525627 benign not specified 2016-09-29 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome-Nilou Lab RCV000208675 SCV002014068 benign Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies 2021-09-05 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000155550 SCV002051455 likely benign not specified 2021-12-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002056089 SCV002403886 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002056089 SCV005208399 likely benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000208675 SCV000733892 benign Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000208675 SCV000745899 benign Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies 2016-01-15 no assertion criteria provided clinical testing

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