ClinVar Miner

Submissions for variant NM_000153.4(GALC):c.328+19T>A (rs74337989)

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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 RCV000078198 SCV000110036 benign not specified 2013-01-03 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000078198 SCV000302717 benign not specified criteria provided, single submitter clinical testing
Invitae RCV001521089 SCV001730351 benign Galactosylceramide beta-galactosidase deficiency 2020-11-20 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001521089 SCV001750088 benign Galactosylceramide beta-galactosidase deficiency 2021-07-01 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000675266 SCV000800915 benign not provided 2015-10-26 no assertion criteria provided clinical testing

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