ClinVar Miner

Submissions for variant NM_000153.4(GALC):c.65G>A (p.Gly22Asp)

dbSNP: rs372285275
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001278963 SCV001639715 likely benign Galactosylceramide beta-galactosidase deficiency 2024-01-22 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV003481045 SCV004227337 uncertain significance not provided 2022-02-25 criteria provided, single submitter clinical testing PM2
Natera, Inc. RCV001278963 SCV001466012 uncertain significance Galactosylceramide beta-galactosidase deficiency 2020-04-18 no assertion criteria provided clinical testing

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