ClinVar Miner

Submissions for variant NM_000153.4(GALC):c.-318T>C (rs556647825)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000761889 SCV000892108 uncertain significance not provided 2018-05-01 criteria provided, single submitter clinical testing
Invitae RCV001080822 SCV001015414 benign Galactosylceramide beta-galactosidase deficiency 2020-12-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV001266085 SCV001444257 uncertain significance Inborn genetic diseases 2019-10-18 criteria provided, single submitter clinical testing
GeneDx RCV000761889 SCV001784314 likely benign not provided 2021-04-13 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 26795590)
Natera, Inc. RCV001080822 SCV001461649 benign Galactosylceramide beta-galactosidase deficiency 2020-04-18 no assertion criteria provided clinical testing

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