ClinVar Miner

Submissions for variant NM_000169.2(GLA):c.-12G>A (rs3027585)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000299308 SCV000902585 benign Fabry disease 2018-03-19 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000035297 SCV000110098 benign not specified 2018-01-11 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000406500 SCV000481408 likely benign Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000299308 SCV000481409 likely benign Fabry disease 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035297 SCV000058945 benign not specified 2012-04-17 criteria provided, single submitter clinical testing -12G>A in the 5' UTR of GLA: This variant is not expected to have clinical signi ficance because it has been identified in 14.5% (467/3216) of African American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /evs.gs.washington.edu/EVS/; dbSNP rs3027585)
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000675281 SCV000800939 benign not provided 2016-12-30 no assertion criteria provided clinical testing
PreventionGenetics RCV000035297 SCV000302832 benign not specified criteria provided, single submitter clinical testing

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