ClinVar Miner

Submissions for variant NM_000153.4(GALC):c.61G>C (p.Ala21Pro) (rs111887056)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078205 SCV000110043 benign not specified 2013-01-03 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000078205 SCV000302724 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000322914 SCV000389269 likely benign Galactosylceramide beta-galactosidase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000322914 SCV000733410 benign Galactosylceramide beta-galactosidase deficiency no assertion criteria provided clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000675270 SCV000800919 benign not provided 2015-10-26 no assertion criteria provided clinical testing

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