ClinVar Miner

Submissions for variant NM_000428.3(LTBP2):c.1553G>T (p.Ser518Ile) (rs137854857)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000954982 SCV001101652 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001116267 SCV001274318 benign Weill-Marchesani syndrome 2018-01-15 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Clinical Services Laboratory,Illumina RCV001116268 SCV001274319 likely benign Glaucoma 3, primary congenital, d 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Elahi Laboratory, University of Tehran RCV000114807 SCV000148702 non-pathogenic Ectopia lentis, isolated, autosomal dominant no assertion criteria provided not provided Converted during submission to Benign.

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