ClinVar Miner

Submissions for variant NM_000153.4(GALC):c.1834+5C>G (rs448805)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000078196 SCV000110034 benign not specified 2015-10-27 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000078196 SCV000302712 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000398764 SCV000389236 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 RCV000398764 SCV001721915 benign Galactosylceramide beta-galactosidase deficiency 2020-11-26 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV000398764 SCV001737399 benign Galactosylceramide beta-galactosidase deficiency 2021-06-10 criteria provided, single submitter clinical testing
GeneDx RCV000675254 SCV001866991 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000398764 SCV000733402 benign Galactosylceramide beta-galactosidase deficiency no assertion criteria provided clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000675254 SCV000800902 benign not provided 2015-10-19 no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV000078196 SCV001923434 benign not specified no assertion criteria provided clinical testing

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