ClinVar Miner

Submissions for variant NM_000153.4(GALC):c.1685T>C (p.Ile562Thr) (rs398607)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078194 SCV000110032 benign not specified 2015-10-27 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000078194 SCV000302710 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000399633 SCV000389239 benign Galactosylceramide beta-galactosidase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000399633 SCV000837663 other Galactosylceramide beta-galactosidase deficiency 2019-01-08 criteria provided, single submitter clinical testing
Mendelics RCV000399633 SCV001139494 benign Galactosylceramide beta-galactosidase deficiency 2019-05-28 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000399633 SCV000733405 benign Galactosylceramide beta-galactosidase deficiency no assertion criteria provided clinical testing

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