ClinVar Miner

Submissions for variant NM_000153.4(GALC):c.1350C>T (p.Ser450=) (rs398076)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000078191 SCV000110029 benign not specified 2015-10-27 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000078191 SCV000302707 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000277817 SCV000389245 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.
Invitae RCV000277817 SCV001721919 benign Galactosylceramide beta-galactosidase deficiency 2020-12-05 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV000277817 SCV001750168 benign Galactosylceramide beta-galactosidase deficiency 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV000675256 SCV001839509 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000277817 SCV000733407 benign Galactosylceramide beta-galactosidase deficiency no assertion criteria provided clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000675256 SCV000800905 benign not provided 2015-10-22 no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV000078191 SCV001922205 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000078191 SCV001967187 benign not specified no assertion criteria provided clinical testing

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