ClinVar Miner

Submissions for variant NM_000020.3(ACVRL1):c.1445C>T (p.Ala482Val)

gnomAD frequency: 0.00201  dbSNP: rs139142865
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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000766346 SCV000249625 likely benign not provided 2020-04-02 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 10323406, 15024723, 18285823, 24055113, 20501893, 25637381, 24082139, 15880681, 19767588, 15517393, 16690726, 15879500, 27316748)
Laboratory for Molecular Medicine,Mass General Brigham Personalized Medicine RCV000196441 SCV000538228 likely benign not specified 2016-04-25 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Identified in multiple control cohorts; ExAC: 0.3% (190/66476) European chromosomes
Invitae RCV000470977 SCV000562552 likely benign Telangiectasia, hereditary hemorrhagic, type 2 2021-12-18 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000470977 SCV000602421 benign Telangiectasia, hereditary hemorrhagic, type 2 2021-09-13 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000470977 SCV000743470 benign Telangiectasia, hereditary hemorrhagic, type 2 2014-10-09 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000470977 SCV001272394 benign Telangiectasia, hereditary hemorrhagic, type 2 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Genome-Nilou Lab RCV000470977 SCV002524618 benign Telangiectasia, hereditary hemorrhagic, type 2 2021-12-05 criteria provided, single submitter clinical testing
CSER _CC_NCGL, University of Washington RCV000148353 SCV000190043 likely benign Haemorrhagic telangiectasia 2 2014-06-01 no assertion criteria provided research
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000470977 SCV000745688 likely benign Telangiectasia, hereditary hemorrhagic, type 2 2016-11-09 no assertion criteria provided clinical testing
Birmingham Platelet Group; University of Birmingham RCV001270508 SCV001450807 uncertain significance Abnormal bleeding; Thrombocytopenia 2020-05-01 no assertion criteria provided research
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000766346 SCV001800539 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000766346 SCV001918244 likely benign not provided no assertion criteria provided clinical testing

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