ClinVar Miner

Submissions for variant NM_000153.4(GALC):c.196-3dup

dbSNP: rs561184126
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002069333 SCV002372666 benign Galactosylceramide beta-galactosidase deficiency 2024-01-04 criteria provided, single submitter clinical testing
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001251990 SCV001427736 likely benign Intellectual disability 2019-01-01 no assertion criteria provided clinical testing

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