ClinVar Miner

Submissions for variant NM_001114753.3(ENG):c.1844C>T (p.Ser615Leu) (rs148002300)

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001079415 SCV000283534 likely benign Hereditary hemorrhagic telangiectasia 2020-12-03 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000243657 SCV000302339 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000230696 SCV000477309 likely benign Hereditary hemorrhagic telangiectasia type 1 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000756073 SCV000512936 likely benign not provided 2020-02-06 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 15712270, 24055113, 25637381, 22022569, 25312062, 30487145)
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000243657 SCV000539097 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: ExAC: 0.4% (108/26946) European chromosomes
SIB Swiss Institute of Bioinformatics RCV000230696 SCV000803471 likely benign Hereditary hemorrhagic telangiectasia type 1 2018-05-31 criteria provided, single submitter curation This variant is interpreted as a Likely Benign, for Telangiectasia, hereditary hemorrhagic, type 1, in Autosomal Dominant manner. The following ACMG Tag(s) were applied: BS1 => Allele frequency is greater than expected for disorder (http://exac.broadinstitute.org/variant/9-130578230-G-A). BS2-Supporting => BS2 downgraded in strength to supporting. BP2 => Observed in trans with a pathogenic variant for a fully penetrant dominant gene/disorder or observed in cis with a pathogenic variant in any inheritance pattern (PMID:15712270).
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000756073 SCV000883788 benign not provided 2017-05-10 criteria provided, single submitter clinical testing
Mendelics RCV000230696 SCV001137908 benign Hereditary hemorrhagic telangiectasia type 1 2019-05-28 criteria provided, single submitter clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV000230696 SCV001439440 benign Hereditary hemorrhagic telangiectasia type 1 2018-01-01 criteria provided, single submitter research BS1 +BP2+BP6
CSER _CC_NCGL, University of Washington RCV000148482 SCV000190184 likely benign Haemorrhagic telangiectasia 1 2014-06-01 no assertion criteria provided research
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000756073 SCV001807556 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV000756073 SCV001921146 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000756073 SCV001929365 likely benign not provided no assertion criteria provided clinical testing

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