ClinVar Miner

Submissions for variant NM_001114753.3(ENG):c.1633G>A (p.Gly545Ser) (rs142896669)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000226902 SCV000283530 likely benign Hereditary hemorrhagic telangiectasia 2020-12-06 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000454429 SCV000539100 uncertain significance 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: 2 probands, no segs in HGMD; ExAC: 0.2% (25/11560) Latino chromosomes
Wendy Chung Laboratory,Columbia University Medical Center RCV000664173 SCV000784732 uncertain significance Pulmonary arterial hypertension associated with congenital heart disease 2018-06-27 criteria provided, single submitter case-control
Illumina Clinical Services Laboratory,Illumina RCV001166478 SCV001328859 benign Hereditary hemorrhagic telangiectasia type 1 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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Medical & Molecular Genetics Group,University of Lincoln RCV000488732 SCV000576357 pathogenic Primary pulmonary hypertension 1 no assertion criteria provided literature only

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