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 benign Galactosylceramide beta-galactosidase deficiency 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
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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