ClinVar Miner

Submissions for variant NM_003573.2(LTBP4):c.1792C>G (p.Arg598Gly) (rs33937741)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000325878 SCV000413280 likely benign Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000431488 SCV000525676 benign not specified 2016-09-30 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.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000431488 SCV000711331 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Arg635Gly in exon 15 of LTBP4: This variant is not expected to have clinical sig nificance because it has been identified in 4.2% (351/8364) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs33937741).

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