ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.1539C>T (p.Phe513=) (rs1805120)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000030100 SCV000052755 benign Cardiac arrhythmia 2011-08-18 criteria provided, single submitter clinical testing Converted during submission to Benign.
PreventionGenetics,PreventionGenetics RCV000252003 SCV000303111 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000242595 SCV000317509 benign Cardiovascular phenotype 2015-03-09 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Internal frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance,General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Illumina Clinical Services Laboratory,Illumina RCV000290606 SCV000467523 likely benign Long QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000252003 SCV000711390 benign not specified 2016-12-27 criteria provided, single submitter clinical testing Phe513Phe in exon 6 of KCNH2: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 25.2% (1110/4406) of African American chromosomes from a broad population by the NHLBI Exome Sequenc ing Project (http://evs.gs.washington.edu/EVS; dbSNP rs1805120).
Color RCV000775988 SCV000910514 benign Arrhythmia 2018-03-16 criteria provided, single submitter clinical testing
Invitae RCV000860286 SCV001000276 benign not provided 2019-03-06 criteria provided, single submitter clinical testing

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