ClinVar Miner

Submissions for variant NM_000153.4(GALC):c.1567C>A (p.Pro523Thr) (rs370952794)

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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 RCV000292754 SCV000340196 uncertain significance not provided 2016-03-03 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000292754 SCV001714486 uncertain significance not provided 2019-04-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV001278155 SCV001465151 uncertain significance Galactosylceramide beta-galactosidase deficiency 2020-07-22 no assertion criteria provided clinical testing

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