ClinVar Miner

Submissions for variant NM_000153.4(GALC):c.516C>T (p.Ala172=)

dbSNP: rs1248283732
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001278959 SCV001656315 likely benign Galactosylceramide beta-galactosidase deficiency 2024-02-17 criteria provided, single submitter clinical testing
Natera, Inc. RCV001278959 SCV001466005 uncertain significance Galactosylceramide beta-galactosidase deficiency 2020-06-19 no assertion criteria provided clinical testing

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