ClinVar Miner

Submissions for variant NM_000169.2(GLA):c.48T>G (p.Leu16=) (rs201449986)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035304 SCV000058952 likely benign not specified 2013-02-08 criteria provided, single submitter clinical testing Leu16Leu in exon 1 of GLA: This variant is not expected to have clinical signifi cance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 1/6728 European America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.ed/EVS/;). Leu16Leu in exon 1 of GLA (allele frequency = 1/6728) **
Illumina Clinical Services Laboratory,Illumina RCV000352576 SCV000481404 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000391328 SCV000481405 uncertain significance Fabry disease 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000035304 SCV000513152 likely benign not specified 2016-11-02 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.
Invitae RCV000391328 SCV000556165 likely benign Fabry disease 2017-10-25 criteria provided, single submitter clinical testing
Color RCV000391328 SCV000913690 likely benign Fabry disease 2018-05-29 criteria provided, single submitter clinical testing

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