ClinVar Miner

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

dbSNP: rs561184126
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002060830 SCV002472785 benign Galactosylceramide beta-galactosidase deficiency 2023-11-07 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000675267 SCV000800916 benign not provided 2017-06-01 no assertion criteria provided clinical testing

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