ClinVar Miner

Submissions for variant NM_001114753.3(ENG):c.1060C>T (p.Leu354=) (rs36092484)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000124891 SCV000168331 benign not specified 2014-03-28 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000124891 SCV000269080 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Leu354Leu in exon 8 of ENG: This variant is not expected to have clinical signif icance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 9.7% (427/4406) of Afr ican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs36092484).
PreventionGenetics,PreventionGenetics RCV000124891 SCV000302330 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000361084 SCV000477334 likely benign Hereditary hemorrhagic telangiectasia type 1 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV001081891 SCV000557858 benign Hereditary hemorrhagic telangiectasia 2020-12-04 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000361084 SCV000603447 benign Hereditary hemorrhagic telangiectasia type 1 2020-09-01 criteria provided, single submitter clinical testing

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