ClinVar Miner

Submissions for variant NM_000153.4(GALC):c.1434G>A (p.Pro478=)

gnomAD frequency: 0.00042  dbSNP: rs200231860
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000875419 SCV001017741 likely benign Galactosylceramide beta-galactosidase deficiency 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003392663 SCV004130223 likely benign not provided 2023-08-01 criteria provided, single submitter clinical testing GALC: BP4, BP7
Natera, Inc. RCV000875419 SCV001454065 likely benign Galactosylceramide beta-galactosidase deficiency 2020-09-16 no assertion criteria provided clinical testing

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