ClinVar Miner

Submissions for variant NM_000153.4(GALC):c.913A>G (p.Ile305Val) (rs74887188)

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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 RCV000180466 SCV000232913 benign not specified 2014-10-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000395980 SCV000389253 likely benign Galactosylceramide beta-galactosidase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000864280 SCV001005061 benign not provided 2019-03-05 criteria provided, single submitter clinical testing

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