ClinVar Miner

Submissions for variant NM_000153.4(GALC):c.1620A>G (p.Thr540=) (rs367327)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000153295 SCV000202772 benign not specified 2015-10-27 criteria provided, single submitter clinical testing
Invitae RCV001514149 SCV001721918 benign Galactosylceramide beta-galactosidase deficiency 2020-11-26 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001514149 SCV001737402 benign Galactosylceramide beta-galactosidase deficiency 2021-06-10 criteria provided, single submitter clinical testing

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