ClinVar Miner

Submissions for variant NM_000153.4(GALC):c.1162-4dup

dbSNP: rs11300320
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
Illumina Laboratory Services, Illumina RCV000386721 SCV000389247 uncertain significance Galactosylceramide beta-galactosidase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000386721 SCV001720097 benign Galactosylceramide beta-galactosidase deficiency 2023-10-18 criteria provided, single submitter clinical testing

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