ClinVar Miner

Submissions for variant NM_014000.2(VCL):c.492T>G (p.Leu164=) (rs143702799)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000152641 SCV000201975 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing p.Leu164Leu in Exon 04 of VCL: 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. It has been identified in 2/7020 European Americ an chromosomes from a broad population by the NHLBI Exome Sequencing Project (ht tp://evs.gs.washington.edu/EVS; dbSNP rs143702799).
Invitae RCV000229322 SCV000289919 benign not provided 2019-02-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV000243984 SCV000319702 benign Cardiovascular phenotype 2016-01-11 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Illumina Clinical Services Laboratory,Illumina RCV000324313 SCV000364915 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing

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