ClinVar Miner

Submissions for variant NM_003573.2(LTBP4):c.2144-11C>A (rs41470347)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000216910 SCV000269233 benign not specified 2013-02-21 criteria provided, single submitter clinical testing 2255-11C>A in intron 16 of LTBP4: This variant is not expected to have clinical significance because it has been identified in 8.2% (683/8378) of European Ameri can chromosomes from a broad population by the NHLBI Exome Sequencing Project (h ttp://; dbSNP rs41470347).
Illumina Clinical Services Laboratory,Illumina RCV000386390 SCV000413284 likely benign Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000216910 SCV000525652 benign not specified 2016-10-03 no assertion criteria provided 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.

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