ClinVar Miner

Submissions for variant NM_000153.4(GALC):c.69G>T (p.Ser23=) (rs763851570)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001089409 SCV001026065 likely benign Galactosylceramide beta-galactosidase deficiency 2020-11-11 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000675269 SCV000800918 likely benign not provided 2018-02-08 no assertion criteria provided clinical testing

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