ClinVar Miner

Submissions for variant NM_003573.2(LTBP4):c.2389+9A>G (rs73544980)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000222903 SCV000269235 benign not specified 2013-02-21 criteria provided, single submitter clinical testing 2500+9A>G in intron 18 of LTBP4: This variant is not expected to have clinical s ignificance because it is not located within the conserved splice consensus sequ ence. It has been identified in 1.3% (53/4192) of African American chromosomes f rom a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.wash ington.edu/EVS; dbSNP rs73544980).
Illumina Clinical Services Laboratory,Illumina RCV000284957 SCV000413291 uncertain significance Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000222903 SCV000714074 likely benign not specified 2017-09-25 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.
Invitae RCV000894153 SCV001038121 benign not provided 2019-03-05 criteria provided, single submitter clinical testing

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