ClinVar Miner

Submissions for variant NM_000218.2(KCNQ1):c.1800G>A (p.Thr600=) (rs147091980)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000251316 SCV000317995 likely benign Cardiovascular phenotype 2016-12-15 criteria provided, single submitter clinical testing
Color RCV000777867 SCV000913873 likely benign Arrhythmia 2018-04-28 criteria provided, single submitter clinical testing
Invitae RCV000205176 SCV000260667 benign Long QT syndrome 2017-11-06 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000150874 SCV000198438 likely benign not specified 2012-04-30 criteria provided, single submitter clinical testing Thr600Thr in Exon 16 of KCNQ1: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 0.1% (6/6988) of Euro pean American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs147091980).

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