ClinVar Miner

Submissions for variant NM_000153.4(GALC):c.1403C>G (p.Thr468Ser) (rs34134328)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000078192 SCV000110030 benign not specified 2013-03-14 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000428446 SCV000511784 likely benign not provided 2016-11-30 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Invitae RCV000538364 SCV000627126 benign Galactosylceramide beta-galactosidase deficiency 2020-12-04 criteria provided, single submitter clinical testing
SIB Swiss Institute of Bioinformatics RCV000538364 SCV000803503 uncertain significance Galactosylceramide beta-galactosidase deficiency 2018-05-31 criteria provided, single submitter curation This variant is interpreted as a Uncertain Significance - Conflicting Evidence, for Krabbe disease, in Autosomal Recessive manner. The following ACMG Tag(s) were applied: PP3 => Multiple lines of computational evidence support a deleterious effect on the gene or gene product. BS1 => Allele frequency is greater than expected for disorder. BS2-Supporting => BS2 downgraded in strength to supporting.
Mendelics RCV000538364 SCV001139495 benign Galactosylceramide beta-galactosidase deficiency 2019-05-28 criteria provided, single submitter clinical testing
GeneDx RCV000428446 SCV001886894 benign not provided 2021-05-25 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 32019516, 27638593, 9338580, 21228398, 20981092, 22995991)

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