ClinVar Miner

Submissions for variant NM_000153.4(GALC):c.1788C>T (p.Phe596=)

gnomAD frequency: 0.00658  dbSNP: rs115018138
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000546589 SCV000627129 benign Galactosylceramide beta-galactosidase deficiency 2024-02-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000546589 SCV001279081 benign Galactosylceramide beta-galactosidase deficiency 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
GeneDx RCV001564763 SCV001787975 likely benign not provided 2020-08-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV000546589 SCV002091313 likely benign Galactosylceramide beta-galactosidase deficiency 2019-12-04 no assertion criteria provided clinical testing

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