ClinVar Miner

Submissions for variant NM_000428.3(LTBP2):c.208A>G (p.Ser70Gly)

gnomAD frequency: 0.00237  dbSNP: rs201787294
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000902003 SCV001046402 benign not provided 2024-01-15 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001116469 SCV001274557 benign Weill-Marchesani syndrome 2017-05-11 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 Laboratory Services, Illumina RCV001116470 SCV001274558 uncertain significance 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). 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.
GeneDx RCV000902003 SCV001770929 likely benign not provided 2019-09-06 criteria provided, single submitter clinical testing

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