ClinVar Miner

Submissions for variant NM_000169.2(GLA):c.978G>A (p.Lys326=) (rs151195362)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000618274 SCV000736814 likely benign Cardiovascular phenotype 2016-01-05 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000035316 SCV000202796 benign not specified 2014-04-22 criteria provided, single submitter clinical testing
Invitae RCV000226702 SCV000283693 benign Fabry disease 2018-01-22 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035316 SCV000058964 benign not specified 2015-04-18 criteria provided, single submitter clinical testing p.Lys326Lys in exon 6 of GLA: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 0.3% (24/8490) of Afri can chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinst itute.org; rs151195362).
PreventionGenetics RCV000035316 SCV000302838 likely benign not specified criteria provided, single submitter clinical testing

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