Submissions for variant NM_000428.3(LTBP2):c.5402G>A (p.Arg1801His)

gnomAD frequency: 0.00022  dbSNP: rs143010135

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV001117004	SCV001275152	uncertain significance	Glaucoma 3, primary congenital, D	2017-04-28	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. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina	RCV001117005	SCV001275153	uncertain significance	Weill-Marchesani syndrome	2017-04-28	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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
CeGaT Center for Human Genetics Tuebingen	RCV001531811	SCV001747103	uncertain significance	not provided	2021-06-01	criteria provided, single submitter	clinical testing
Invitae	RCV001531811	SCV002460596	likely benign	not provided	2024-01-17	criteria provided, single submitter	clinical testing